A novel deletion mutation in P2RY5/LPA6 gene cause autosomal recessive woolly hair with hypotrichosis

Journal of the European Academy of Dermatology and Venereology

Volumn 24, Issue 7, 2010, Pages 858-859

  Horev, L ^a   Saad Edin, B ^b   Ingber, A ^a   Zlotogorski, A ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Refaat Huwarri Center   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDIC ACID; PHOSPHOLIPASE A1; TRIACYLGLYCEROL LIPASE; LPAR4 PROTEIN, HUMAN; PURINERGIC P2 RECEPTOR;

ARAB; ASIAN; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE WOOLLY HAIR; CASE REPORT; CAUCASIAN; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DNA EXTRACTION; ELECTROCARDIOGRAM; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; HYPOTRICHOSIS; LETTER; MOSLEM; MULTIPLE ORGAN FAILURE; PRIORITY JOURNAL; SCHOOL CHILD; GENETICS; HAIR; MUTATION; PRESCHOOL CHILD; RECESSIVE GENE;

CHILD; CHILD, PRESCHOOL; GENES, RECESSIVE; HAIR; HUMANS; HYPOTRICHOSIS; MUTATION; RECEPTORS, PURINERGIC P2; SEQUENCE DELETION;

EID: 77953189968     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2009.03514.x     Document Type: Letter

References (10)

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