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Quoted phrase not found in phrase index: "Geleophysic dysplasia 1"
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A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y. Li D, et al. Eur J Med Genet. 2017 Dec;60(12):685-689. doi: 10.1016/j.ejmg.2017.09.003. Epub 2017 Sep 14. Eur J Med Genet. 2017. PMID: 28917829
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. ...In conclusion, we have identified a novel splicing mutation of ADAMTSL2 carried by a Chinese boy with geleophysic dysplasia type 1. The patient w …
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. ...In conclusion, we have ide …
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K. Lee T, et al. Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2. Gene. 2013. PMID: 23124041 Clinical Trial.
Geleophysic dysplasia (GD) is a rare disorder characterized by severe short stature, short hands and feet, limited joint mobility, skin thickening, characteristic facial features (e.g., a "happy" face), and cardiac valvular disorders that often result in an early de …
Geleophysic dysplasia (GD) is a rare disorder characterized by severe short stature, short hands and feet, limited joint mobil …