logo
Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness
Associated anomalies in multi-malformed infants with cleft lip and palate
Interferon regulatory factor 6 ( IRF6 ) and fibroblast growth factor receptor 1 ( FGFR1 ) contribute to human tooth agenesis
Congenital arhinia
Trisomy 18
Disruption of a synaptotagmin ( SYT14 ) associated with neurodevelopmental abnormalities
Genetic information
Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome
Tricho-hepato-enteric syndrome
Intractable diarrhea with “phenotypic anomalies” and tricho-hepato-enteric syndrome
Increasing knowledge of PTEN germline mutations
Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus
Delineation of the cryptic 1qter deletion phenotype
Vitreous phenotype
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation
Diagnosis of genetic abnormalities in developmentally delayed patients
Transmitted duplication of 12q21.32–12q22 includes 48 genes and has no apparent phenotypic consequences
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes
Methylation pattern at the KvDMR in a child with Beckwith–Wiedemann syndrome conceived by ICSI
DNA and the criminal justice system
Pancreatitis as a manifestation of mitochondrial disorder