Disease: Pseudohermaphroditism female skeletal anomalies
- A case of Klippel-Feil and Turner syndromes
- A Case of Mayer-Rokitansky-Küster-Hauser Syndrome Diagnosed in Infancy after Evaluation of Palpable Gonads
- A case of Mayer-Rokitansky-Küster-Hauser syndrome presenting as Graves disease
- A case of Turner syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus
- A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal
- A three-dimensional comparison of the modifying effects of familial genetic contribution in Turner syndrome
- Absence of WNT4 gene mutation in a patient with MURCS association
- Adolescent female reproductive system dysplasia: a clinical study of 356 cases
- Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene
- An infant born to a mother with gestational diabetes presenting with 49,XXXXY syndrome and renal agenesis-a case report
- An unusual cause of duodenal obstruction: mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome
- Analysis of skeletal maturity of children with cleft palate in terms of healthy children by the CVM method
- Anatomy of turner syndrome
- Anesthetic management of a child with both Marfan syndrome and Turner syndrome
- Are copy number variants associated with adolescent idiopathic scoliosis?
- Assessment of Biochemical Bone Turnover Markers in Polish Healthy Children and Adolescents
- Association of a single nucleotide polymorphism in HOXB9 with developmental dysplasia of the hip: a case-control study
- Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)
- Bioinformatic Analysis Identifies Potential Key Genes in the Pathogenesis of Turner Syndrome
- Case Report: Novel Compound Heterozygotic Variants in <em>PPP2R3C</em> Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review
- Clinical characteristics of 1,055 Chinese patients with Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide multicentric study
- Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients
- Concomitant extragenital malformations of female reproductive tract anomalies: analysis of 444 cases in Peking Union Medical College Hospital
- Congenital heart defects in patients with deletions upstream of SOX9
- Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome
- Declining muscle NAD<sup>+</sup> in a hyperandrogenism PCOS mouse model: Possible role in metabolic dysregulation
- Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy
- Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?
- DNA copy number variations are important in the complex genetic architecture of mullerian disorders
- DNA methylation in polycystic ovary syndrome: Emerging evidence and challenges
- Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients
- Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia
- Epigenetics in Turner syndrome
- Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome
- Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature
- Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
- Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome
- Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants
- Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly
- Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
- Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
- Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins
- Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome
- Health-related quality of life in Turner syndrome and the influence of key features
- How and when to evaluate hypospadias?
- Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
- Impact of parental origin of X-chromosome on clinical and biochemical profile in Turner syndrome
- Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome
- Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India
- Large leiomyoma in a woman with Mayer-Rokitansky-Kuster-Hauser syndrome
- Lichen sclerosus associated with Turner syndrome treated with photodynamic therapy: A case report
- Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
- Male pseudohermaphroditism in a complex malformed calf born with an acardius amorphus cotwin-a case report
- Management of Klippel-Feil syndrome combined with Turner syndrome: a case report
- Mayer Rokitansky Kuster Hauser (MRKH) syndrome with absent thumbs and big toes
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update
- Mayer-Rokitansky-Kuster-Hauser syndrome and anal canal stenosis: case report and review of literature
- Mayer-Rokitansky-Kuster-Hauser syndrome and stress urinary incontinence
- Mayer-Rokitansky-Kuster-Hauser syndrome: complications, diagnosis and possible treatment options: a review
- Mortality of congenital osteochondrodysplasias: a nationwide registry-based study
- Mosaic double aneuploidy (45,X/47,XX,+8) with aortic dissection
- Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations
- Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies
- Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations
- Novel associations in disorders of sex development: findings from the I-DSD Registry
- Organ Abnormalities Caused by Turner Syndrome
- Orthopaedic Manifestations in Turner Syndrome
- Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report
- Perrault syndrome with Marfanoid habitus in two siblings
- Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf
- Perturbations of genes essential for Mullerian duct and Wolffian duct development in Mayer-Rokitansky-Kuster-Hauser syndrome
- Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations
- Post-surgical dentofacial deformities and dental treatment needs in cleft-lip-palate children: a clinical study
- PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
- Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases
- Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency
- Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
- Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
- Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
- Rare variant enrichment analysis supports <em>GREB1L</em> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
- Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience
- Seckel-like syndrome: a patient with precocious puberty associated with nonclassical congenital adrenal hyperplasia
- Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome
- Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene
- SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome
- Skeletal muscle abnormalities in girls and adolescents with Turner syndrome
- Skeletal muscle alterations indicate poor prognosis in cirrhotic patients: a multicenter cohort study in China
- Somatic development in children with Shwachman-Diamond syndrome
- Spectrum of Genital and Extragenital Anomalies in Malformation Syndromes Associated With 46, XY Disorders of Sex Development: A Single Center Experience
- Spectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases
- The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis
- The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
- The knee alignment and the foot arch in patients with Turner syndrome
- The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report
- The role of the SHOX gene in the pathophysiology of Turner syndrome
- The use of dehydroepiandrosterone-treated rats is not a good animal model for the study of metabolic abnormalities in polycystic ovary syndrome
- Turner syndrome and osteoporosis
- Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome
- Vaginal agenesis, the hymen, and associated anomalies