Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)-Reference-Cited by-同舟云学术

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)

Published:2018-02 Issue: Volume:107 Page:161-171
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Otaify Ghada A.,Whyte Michael P.,Gottesman Gary S.,McAlister William H.,Eric Gordon J.,Hollander Abby,Andrews Marisa V.,El-Mofty Samir K.,Chen Wei-Shen,Veis Deborah V.,Stolina Marina,Woo Albert S.,Katsonis Panagiotis,Lichtarge Olivier,Zhang Fan,Shinawi Marwan^ORCID

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

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3. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphysealdyplasia in a large Italian pedigree;Marconi;Eur. J. Hum. Genet.,2013

4. Familial cases of a new systemic bone disease, hereditary gnatho-diaphyseal sclerosis;Akasaka;Nippon Seikeigeka Gakkai Zasshi,1969

5. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD);Tsutsumi;Am. J. Hum. Genet.,2004

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