Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. U...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Eur J Hum Genet
मुख्य लेखकों: Brancati, Francesco, Camerota, Letizia, Colao, Emma, Vega-Warner, Virginia, Zhao, Xiangzhong, Zhang, Ruixiao, Bottillo, Irene, Castori, Marco, Caglioti, Alfredo, Sangiuolo, Federica, Novelli, Giuseppe, Perrotti, Nicola, Otto, Edgar A.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Springer International Publishing 2018
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117343/
https://ncbi.nlm.nih.gov/pubmed/29891882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0183-6
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