Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene

Experimental Dermatology

Volumn 18, Issue 3, 2009, Pages 218-221

  Shimomura, Yutaka ^a   Garzon, Maria C ^a   Kristal, Leonard ^b   Shapiro, Lawrence ^a   Christiano, Angela M ^a  

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

^b STONY BROOK UNIVERSITY   (United States)

Author keywords

Hypotrichosis; Lipase H; P2RY5; Woolly hair

Indexed keywords

G PROTEIN COUPLED RECEPTOR; PURINERGIC P2Y RECEPTOR; PURINERGIC P2Y5 RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CORRELATION; HAIR GROWTH; HOMOZYGOSITY; HUMAN; HYPOPIGMENTATION; HYPOTRICHOSIS; MUTATIONAL ANALYSIS; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PROTEIN ANALYSIS; SCALP HAIR; SCHOOL CHILD;

AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHILD; FEMALE; HAIR; HOMOZYGOTE; HUMANS; HYPOTRICHOSIS; IRAN; LIPASE; LYSOPHOSPHOLIPIDS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, PURINERGIC P2; SIGNAL TRANSDUCTION;

EID: 64549101227     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2008.00788.x     Document Type: Article

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