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Quoted phrase not found in phrase index: "Heart defect - tongue hamartoma - polysyndactyly syndrome"
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Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
Saari J, Lovell MA, Yu HC, Bellus GA. Saari J, et al. Am J Med Genet A. 2015 Feb;167A(2):421-7. doi: 10.1002/ajmg.a.36852. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25427950
We report on a young girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. These features are similar to those reported in individuals with variant forms of orofaciodigital syndrome known as congenital heart defect …
We report on a young girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. These features are simi …
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful?
Velepic MS, Sasso A, Velepic MM, Lustica I, Starcevic R, Komljenovic D. Velepic MS, et al. J Pediatr Surg. 2004 Feb;39(2):220-2. doi: 10.1016/j.jpedsurg.2003.10.023. J Pediatr Surg. 2004. PMID: 14966745
The authors present a girl with typical characteristics of oral-facial-digital syndrome type II (Mohr syndrome) with a cleft soft palate and pendulous tongue nodules. ...One half showed a normal muscle action potential and in the other half electrical silence …
The authors present a girl with typical characteristics of oral-facial-digital syndrome type II (Mohr syndrome) with a cleft s …