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Article

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

American journal of medical genetics. Part A - 1 Jan 2016

Urreizti Roser, Roca-Ayats Neus, Trepat Judith, Garcia-Garcia Francisco, Aleman Alejandro, Orteschi Daniela, Marangi Giuseppe, Neri Giovanni, Opitz John M, Dopazo Joaquin, Cormand Bru, Vilageliu Lluïsa, Balcells Susana, Grinberg Daniel

Abstract excerpt

Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic disorders with phenotypic overlap. The genetic causes of these diseases are not understood. However, two genes have been associated with OTCS or BOS with dominantly inherited de novo mutations. Whereas CD96 has been related to OTCS (one case) and to BOS (one case), ASXL1 has been related to...

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Identifiers

PMID: 26768331
DOI: 10.1002/ajmg.a.37418

Genes

ASXL1

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Related research

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Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.PMID 26768331Read ↗

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Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.Semantic proximity Read ↗

Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeSemantic proximity Read ↗

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Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.Semantic proximity Read ↗

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Semantic proximity Read ↗

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