woolly hair—autosomal recessive—2

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woolly hair—autosomal recessive—22016-11-28T13:53:55+00:00

woolly hair—autosomal recessive—2

woolly hair—autosomal recessive—2 image from New Medical terms

woolly hair


Definition A condition (OMIM:604379) characterised by fine and tightly curled hair that grows more slowly and in shorter lengths than normal curly hair seen in some populations; it may be accompanied by hypotrichosis.

Micro Structural defects include trichorrhexis nodosa and tapered ends.

Molecular pathology Defects of LIPH, which encodes a lipase that catalyses production of lysophosphatidic acid, a potent bioactive lipid with diverse biological properties, cause woolly hair—autosomal recessive—2. 

References http://www.uniprot.org/uniprot/Q8WWY8


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