acromesomelic dysplasia—Hunter-Thompson type

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acromesomelic dysplasia—Hunter-Thompson type2016-11-24T13:16:48+00:00

acromesomelic dysplasia—Hunter-Thompson type

GENETICS

An autosomal recessive form (OMIM:201250) of dwarfism characterised by normal axial skeleton, limb malformations with the middle and distal segments most affected and lower limbs more than upper limbs and missing or fused skeletal elements in the hands and feet. 

Synonyms Acromesomelic chondrodysplasia—Hunter-Thompson type 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDF5

http://www.omim.org/entry/201250

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