TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletio...

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Autors principals: Ogata, Tsutomu, Niihori, Tetsuya, Tanaka, Noriko, Kawai, Masahiko, Nagashima, Takeshi, Funayama, Ryo, Nakayama, Keiko, Nakashima, Shinichi, Kato, Fumiko, Fukami, Maki, Aoki, Yoko, Matsubara, Yoichi
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3956758/
https://ncbi.nlm.nih.gov/pubmed/24637876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0091598
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