Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair

Journal of the American Academy of Dermatology

Volumn 61, Issue 5, 2009, Pages 813-818

  Horev, Liran ^a   Tosti, Antonella ^b   Rosen, Irit ^a   Hershko, Klilah ^a   Vincenzi, Colombina ^b   Nanova, Krassimira ^a   Mali, Alexander ^a   Potikha, Tamara ^a   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

hypotrichosis simplex; lipase H gene; mutation; woolly hair

Indexed keywords

PROTEIN LIPASE H; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HISTOLOGY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; MAJOR CLINICAL STUDY; MICROSCOPY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ARABS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENE DUPLICATION; GENES, RECESSIVE; HAIR; HAIR FOLLICLE; HUMANS; HYPOTRICHOSIS; ITALY; JEWS; LIPASE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 70349798393     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2009.04.020     Document Type: Article

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