A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis [3]

Journal of Investigative Dermatology

Volumn 123, Issue 3, 2004, Pages 607-610

  Moss, Celia ^a   Martinez Mir, Amalia ^b   Lam, HaMut ^b   Tadin Strapps, Marija ^b   Kljuic, Ana ^d   Christiano, Angela M ^b,c  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c College of Physicians and Surgeons ^*  (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

DESMOGLEIN; DESMOGLEIN 4; DNA; UNCLASSIFIED DRUG;

ALOPECIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DESMOGLEIN 4 GENE; DNA DETERMINATION; EXON; FAMILY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HAIR GROWTH; HUMAN; HYPOTRICHOSIS; INTRON; LETTER; LOCALIZED AUTOSOMAL RECESSIVE HYPOTRICHOSIS; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SEQUENCE ANALYSIS; SIBLING; SKIN;

EID: 4143091624     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23311.x     Document Type: Article

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