Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum

Clinical Genetics

Volumn 79, Issue 1, 2011, Pages 92-95

  Castori, M ^a   Castiglia, D ^b   Brancati, F ^c   Foglio, M ^d   Heath, S ^d   Floriddia, G ^b   Madonna, S ^b   Fischer, J ^d   Zambruno, G ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d DIF   (France)

Author keywords

[No Author keywords available]

Indexed keywords

WNT10A PROTEIN;

AGED; BREAST HYPOPLASIA; CASE REPORT; ECTODERMAL DYSPLASIA; EYELID DISEASE; FAMILIAL INCIDENCE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HIDRADENOMA; HOMOZYGOSITY; HUMAN; HYPODONTIA; HYPOTRICHOSIS; LETTER; MALE; MISSENSE MUTATION; NAIL DYSTROPHY; OLIGODONTIA; OUTCOME ASSESSMENT; PALMOPLANTAR KERATODERMA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PUNCH BIOPSY; ROSACEA; SCHOPF SCHULZ PASSARGE SYNDROME; SKIN EXFOLIATION;

AGED; AMINO ACID SEQUENCE; ECTODERMAL DYSPLASIA; EXONS; FEMALE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; WNT PROTEINS;

EID: 78649987736     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01513.x     Document Type: Letter

References (15)

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