Search results for "X-linked Opitz syndrome"

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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

2004

Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …

Malemedicine.medical_specialtyUbiquitin-Protein LigasesBiologymedicine.disease_causeGastroenterologyG/BBB SYNDROMEFAMILIESGenomic disorders and inherited multi-system disorders [IGMD 3]Genotype-phenotype distinctionInternal medicineGeneticsmedicineHumansHypertelorismGeneGenetics (clinical)GeneticsFamily HealthX-linked Opitz syndromeMutationMID1Nuclear ProteinsGenetic Diseases X-LinkedExonsOpitz G/BBB Syndromemedicine.diseasePhenotypeGENEPedigreeSmith-Lemli-Opitz SyndromePhenotypeGenetic defects of metabolism [UMCN 5.1]HypospadiasMutationMicrotubule ProteinsFemalephenotypic variabilityXP22medicine.symptomImperforate anusFunctional Neurogenomics [DCN 2]BBBTranscription FactorsAmerican Journal of Medical Genetics. Part A
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