Disease: Microcephaly hypergonadotropic hypogonadism short stature
- A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa
- A hypothesis on the preferential destruction of melanized tissues
- A new case of Martsolf syndrome
- A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26
- A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome
- A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
- A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
- A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism
- A UV-specific endonucleolytic activity present in human cell extracts
- An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome
- Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
- Brain white matter abnormalities associated with copy number variants
- Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome"
- Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6
- De Sanctis-Cacchione syndrome
- De Sanctis-Cacchione syndrome
- De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurological complications)
- De Sanctis-Cacchione syndrome in a female infant--case report
- De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature
- De Sanctis-Cacchione type xeroderma pigmentosum
- Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
- Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
- Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum
- Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid
- Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations
- Genetic disorders associated with postnatal microcephaly
- Genetic IGF1R defects: new cases expand the spectrum of clinical features
- Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes
- Idiotia xerodermica (DeSanctis-Cacchione-syndrome)
- Importance and heterogenity of xeroderma pigmentosum syndrome
- Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase
- ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
- Long Term Growth Hormone Therapy in a Patient with <em>IGF1R</em> Deletion Accompanied by Delayed Puberty and Central Hypothyroidism
- Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance
- Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome
- Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers
- Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?
- Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations
- Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome
- Prader-Willi syndrome: clinical and molecular cytogenetic investigations
- PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
- Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
- Recovery of the ability to synthesize DNA in segments of normal size at long times after ultraviolet irradiation of human cells
- SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome
- Small pituitary size in children with Fanconi anemia
- Studies in the childhood psychoses. I. Diagnostic criteria and classification
- THE XXXXY SYNDROME
- Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly
- UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes
- X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
- Xeroderma pigmentosum
- XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME
- Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism