Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference64 articles.
1. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification;Adegbite;Am. J. Med. Genet. A,2008
2. Dyskeratosis congenita with linear areas of severe cutaneous involvement;Baselga;Am. J. Med. Genet.,1998
3. Legius syndrome: case report and review of literature;Benelli;Ital. J. Pediatr.,2015
4. Porokeratosis Mibelli;Bloom;Arch. Dermatol.,1943
5. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype;Brems;Nat. Genet.,2007
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