A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families.
PMID: 32201334 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Nabil A, El Shafei S, El Shakankiri NM, Habib A, Morsy H, Maddirevula S, Alkuraya FS Tags: Eur J Med Genet Source Type: research
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