A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus

Minerva Pediatrica

Volumn 64, Issue 1, 2012, Pages 59-64

  Piccione, Maria ^a   Serra, G ^a   Sanfilippo, C ^a   Andreucci, E ^b,c   Sani, I ^b,c   Corsello, G ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Ectodermal dysplasia; Keratoconus; Mutation, missense

Indexed keywords

ECTODYSPLASIN A; TUMOR NECROSIS FACTOR;

ARTICLE; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPOHIDROTIC ECTODERMAL DYSPLASIA; KERATOCONUS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN STABILITY;

ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; HUMANS; INFANT; KERATOCONUS; MALE; MUTATION;

EID: 84860272499     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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