Czech family confirms the new 1p36.13‐1p36.12 microdeletion syndrome
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DOI: 10.1111/cge.14175
Abstract: Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of… read more here.
Keywords: microdeletion syndrome; 1p36 microdeletion; family; 1p36 1p36 ... See more keywords