Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions

Journal of Investigative Dermatology

Volumn 126, Issue 6, 2006, Pages 1286-1291

  Schaffer, Julie V ^a   Bazzi, Hisham ^b   Vitebsky, Anna ^b   Witkiewicz, Agnieszka ^a   Kovich, Olympia I ^a   Kamino, Hideko ^a   Shapiro, Lawrence S ^b   Amin, Snehal P ^c   Orlow, Seth J ^a   Christiano, Angela M ^b,d  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^c Skin Laser and Surgery Specialists of NY/NJ   (United States)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOGLEIN; DESMOGLEIN 4; UNCLASSIFIED DRUG; DSG4 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIUM BINDING; CASE REPORT; CHILD; EPIDERMIS; FEMALE; GENE DELETION; GENE MUTATION; HAIR; HAIR FOLLICLE; HUMAN; HYPERKERATOSIS; HYPOTRICHOSIS; INFANT; IRAN; IRAQ; MALE; MISSENSE MUTATION; MONILETHRIX; PAKISTAN; PAPULE; PRIORITY JOURNAL; PRURITUS; SCALP; SIBLING; SKIN DISEASE; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; HAIR DISEASE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; PROTEIN CONFORMATION; TWINS;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; DESMOGLEINS; DNA MUTATIONAL ANALYSIS; FEMALE; HAIR; HAIR DISEASES; HUMANS; HYPOTRICHOSIS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PROTEIN CONFORMATION; SCALP; SCALP DERMATOSES;

EID: 33745551443     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700237     Document Type: Article

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