Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review
Copyright policy )Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review
AbstractAl‐Awadi/Raas‐Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation was identified by Woods et al. [2006]: 1179C → T, resulting in Arg292Cys with complete loss of WNT7A function. © 2007 Wiley‐Liss, Inc.
Family Health, Male, Limb Deformities, Congenital, Genes, Recessive, Genetic Counseling, Syndrome, Pelvis, Fetus, Humans, Female
Family Health, Male, Limb Deformities, Congenital, Genes, Recessive, Genetic Counseling, Syndrome, Pelvis, Fetus, Humans, Female
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