Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

Australasian Journal of Dermatology

Volumn 52, Issue 3, 2011, Pages 224-226

  Petrof, Gabriela ^a   Fong, Kenneth ^a   Lai Cheong, Joey E ^a   Cockayne, Sarah E ^b   McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

Author keywords

ectodermal dysplasia; Wnt signalling

Indexed keywords

WNT10A PROTEIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DENTITION; ECTODERMAL DYSPLASIA; FEMALE; GENE SEQUENCE; HUMAN; HYPERHIDROSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PALMOPLANTAR KERATODERMA; POLYMERASE CHAIN REACTION; SCHOPF SCHULZ PASSARGE SYNDROME; SECONDARY DENTITION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CODON, NONSENSE; ECTODERMAL DYSPLASIA; EYELID DISEASES; FEMALE; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MIDDLE AGED; SEQUENCE ANALYSIS, DNA; SYNDROME; WNT PROTEINS; WNT SIGNALING PATHWAY;

EID: 80051801625     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2011.00788.x     Document Type: Article

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