X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: Genotypic-dental phenotypic findings

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 257-266

  Clauss, F ^a,b   Chassaing, N ^c   Smahi, A ^d   Vincent, M C ^c   Calvas, P ^c   Molla, M ^e   Lesot, H ^b   Alembik, Y ^a   Hadj Rabia, S ^d   Bodemer, C ^d   Maniere M C ^a   Schmittbuhl, M ^a,b  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c CHU PURPAN   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Dental phenotype; EDA; EDAR; Hypohidrotic ectodermal dysplasia; X linked HED

Indexed keywords

ECTODYSPLASIN A; EDAR ASSOCIATED DEATH DOMAIN PROTEIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA; CANINE TOOTH; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENTITION; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INCISOR; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGODONTIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; TOOTH; TOOTH DEVELOPMENT; X LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; ECTODYSPLASINS; EDAR RECEPTOR; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; ODONTOGENESIS; PHENOTYPE; RETROSPECTIVE STUDIES; TOOTH ABNORMALITIES; YOUNG ADULT;

EID: 77955835996     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01376.x     Document Type: Article

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