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Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also be...

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Vydáno v:Mol Syndromol
Hlavní autoři: Gamba, Bruno F., Rosenberg, Carla, Costa, Silvia, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4369120/
https://ncbi.nlm.nih.gov/pubmed/25852446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000371404
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