BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second fami...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2016
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908150/
https://ncbi.nlm.nih.gov/pubmed/27236923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.004
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki