Novel <b><i>KIF7</i></b> Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature
نویسندگان
چکیده
منابع مشابه
McCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2015
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000439414