Literature DB >> 22704271

Boucher-Neuhäuser syndrome.

Marcos M Lima-Martínez, Victor Gil, José Zerpa, Pedro Rivas, Roald Gómez-Pérez, Jesús Osuna.   

Abstract

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Year:  2012        PMID： 22704271     DOI： 10.1016/j.endonu.2012.04.004

Source DB:  PubMed          Journal:  Endocrinol Nutr        ISSN： 1575-0922


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  1 in total

1.  A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.

Authors:  Ruizhi Zheng; Yaguang Zhao; Jiayu Wu; Yuanmei Wang; Jian-Ling Liu; Zhi-Ling Zhou; Xiao-Tao Zhou; Dan-Na Chen; Wei-Hua Liao; Jia-Da Li
Journal:  Mol Med Rep       Date:  2018-05-03       Impact factor: 2.952
  1 in total

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