Disease: Mental retardation short stature hypertelorism
- 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum
- 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment
- A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
- A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features
- A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the <em>ZEB2</em> Gene
- A comprehensive scoring system for evaluating Noonan syndrome
- A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome
- A de novo nonsense mutation in <em>ASXL3</em> shared by siblings with Bainbridge-Ropers syndrome
- A new X-linked mental retardation syndrome
- A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4
- A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation
- A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome
- A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
- A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome
- An aminopterin-like syndrome without aminopterin (ASSAS)
- Anesthetic Management of a Patient With Ring 18 Syndrome
- Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year
- Baraitser and Winter syndrome with growth hormone deficiency
- Baraitser-Winter cerebrofrontofacial syndrome
- Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q
- Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
- Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging
- Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988
- Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
- Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome
- Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
- Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation
- Clinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2)
- Coffin-Lowry syndrome: clinical and molecular features
- Coffin-Lowry syndrome: findings and dental treatment
- Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia
- Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies
- Craniosynostosis associated with limb reduction malformations and cleft lip/palate: a distinct syndrome
- Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia
- Dubowitz syndrome: a dysmorphism syndrome with developmental delay, transitory short stature, hyperactive behavior and atopic dermatitis
- Duplication 3p syndrome: report of a new case and review of the literature
- Endocrinologic study of 4 children with Noonan's syndrome
- Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness
- FG syndrome in 2 half brothers
- First Case of a Dominant De Novo <em>SEC23A</em> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review
- Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature
- Hemodynamic consequences of a swinging, infarcted ventricular septum
- Hypertrophic obstructive cardiomyopathy and lentiginosis (author's transl)
- Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies
- Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies
- Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome
- Jacobsen syndrome without thrombocytopenia: a case report and review of the literature
- KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
- Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature
- Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features
- Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient
- Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features
- Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH
- Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case
- Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
- Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1
- New ocular finding in Baraitser-Winter syndrome (BWS)
- New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3
- New X-linked syndrome of mental retardation, short stature, and hypertelorism
- Noonan syndrome: introduction and basic clinical features
- Nosologic evaluation of Noonan syndrome and description of nine cases
- Novel <em>de novo</em> interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome
- Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, and metabolic abnormality
- Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay
- Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay
- Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome
- Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
- Provisionally unique autosomal recessive syndrome due to significant consanguinity
- PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan
- Severe skeletal dysplasia caused by undiagnosed hypothyroidism
- Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases
- Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation
- Syndromic diarrhea/Tricho-hepato-enteric syndrome
- Tetrasomy Y by structural rearrangement: clinical report
- The 18 p- syndrome: report of one case
- The 18 p-syndrome. Report of four cases
- The 18p-syndrome (author's transl)
- The Dubowitz syndrome
- The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in <em>ACTB</em> Diagnosed Via Targeted Gene Panel Sequencing and Literature Review
- The History of Noonan Syndrome
- Trisomy 9p due to paternal translocation, t(9;13) (q13;q12)
- Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2
- UBE2A-related X-linked intellectual disability
- Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation
- Wiedemann-Steiner Syndrome: Case Report and Review of Literature
- X-linked syndrome of mental retardation, short stature, and hypertelorism: a new syndrome or a further example of the FG syndrome?
- Y-to-X chromosome translocation observed in two generations