Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion

Journal of the European Academy of Dermatology and Venereology

Volumn 25, Issue 5, 2011, Pages 592-595

  Vreeburg, M ^a,b   Van Geel, M ^a,b   Van Den Heuij, L G T ^a,b   Steijlen, P M ^a,b   Van Steensel, M A M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

focal dermal hypoplasia; Goltz; mosaicism; PORCN; WNT

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE; GENE DELETION; GENE SEQUENCE; GOLTZ SYNDROME; HUMAN; MALE; MOSAICISM; PORCN GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

CHILD, PRESCHOOL; FOCAL DERMAL HYPOPLASIA; HUMANS; MALE; MEMBRANE PROTEINS; MOSAICISM; SEQUENCE DELETION;

EID: 79954589250     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2010.03782.x     Document Type: Article

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