Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
American Journal of Human Genetics
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Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome *Gene map locus 3p25 AARRS Al-Awadi/Raas-Rothschild syndrome LPHAS Limb/pelvis-hypoplasia/aplasia syndrome Schinzel phocomelia syndrome Ulna and fibula, absence of, with severe limb deficiency [Clinical features: limb deficiencies and absent or hypoplastic pelvic bones] [Inheritance: autosomal recessive] |
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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome |
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American Journal of Human Genetics |
