• 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes
• 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
• A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination
• A fertile patient with 45X/47XXX mosaicism
• A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
• A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
• A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome
• A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects
• A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes
• A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing
• A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
• A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
• A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
• A site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry
• Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome
• Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan
• An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
• An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
• Analysis of perrault syndrome caused by pathogenic variants in <em>LARS2</em> and <em>HARS2</em> genes
• Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes
• Analysis of TWNK variant in a family affected with Perrault syndrome
• At Term, XmO and XpO Mouse Placentas Show Differences in Glucose Metabolism in the Trophectoderm-Derived Outer Zone
• Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
• Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms
• Broadening the phenotype of the TWNK gene associated Perrault syndrome
• Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features
• Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
• Clinical and genetic characteristics of disorders of sex development in Sudanese patients
• CLPP Depletion Causes Diplotene Arrest; Underlying Testis Mitochondrial Dysfunction Occurs with Accumulation of Perrault Proteins ERAL1, PEO1, and HARS2
• Congenital adrenal hyperplasia causing hypertension: an illustrative review
• Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
• Diagnosis and management of non-CAH 46,XX disorders/differences in sex development
• Disorders of Sex Development in Office Practice
• Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley
• Disorders of sexual development in the cat: Current state of knowledge and diagnostic approach
• Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea
• Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3
• Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
• Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene
• Expanding the genotypic spectrum of Perrault syndrome
• First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family
• Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome
• Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree
• Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management
• Genetics, Gonadal Dysgenesis
• Genetics, Gonadal Dysgenesis
• Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
• Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature
• Gonadoblastoma: Clinicopathological study and literature review of 3 cases
• Histone H2AFX Links Meiotic Chromosome Asynapsis to Prophase I Oocyte Loss in Mammals
• Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome
• Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome
• Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues
• Incidence and diagnoses of disorders of sex development in proximal hypospadias
• Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
• LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
• LARS2-Perrault syndrome: a new case report and literature review
• Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa)
• Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis
• Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature
• Marfanoid habitus is a nonspecific feature of Perrault syndrome
• Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
• Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study
• Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome
• Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features
• Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome
• New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
• New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment
• Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome
• Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome
• Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review
• Pelvic Images of 46,XX Pure Gonadal Dysgenesis Patient after Hormone Replacement Therapy
• Perrault syndrome type 3 caused by diverse molecular defects in CLPP
• Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc
• Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
• Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
• Perrault syndrome: Clinical report and retrospective analysis
• Perrault syndrome: The Way Forward After Genetic Counselling?
• Primary gonadal failure
• Pure gonadal dysgenesis (46 XX type) with a familial pattern
• Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment
• Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience
• Role of <em>NR5A1</em> Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features
• Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome
• Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome
• Sexual Function in Women with Differences of Sex Development or Premature Loss of Gonadal Function
• Syndrome Of 46, XX Male With Sex-Determining Region Of Y (SRY) Chromosome Missing, Bilateral Gynecomastia And Complete Virilization: About A Case
• The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
• The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD
• Total Vaginectomy in a True Hermaphrodite: A Case Report
• Tuberculosis treatment spills the beans on Wilson's disease and more
• Turner like dysmorphia as presenting feature of Type-II Mayer-Rokitansky-Kuster-Hauser syndrome
• Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
• Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
• Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism
• Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement
• Unresolved questions regarding human hereditary deafness
• Unusual combination of acute aortic dissection, Mayer-Rokitansky-Kuster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
• Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service
• X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood