Genomic Disruption of <i>FOXL2</i> in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation.

Niu, Bei-Bei; Tang, Ning; Xu, Qin; Chai, Pei-Wei

Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation.

Niu, Bei-Bei; Tang, Ning; Xu, Qin; Chai, Pei-Wei.

Afiliação

Niu BB; Scientific Research Center, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
Tang N; Scientific Research Center, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
Xu Q; Scientific Research Center, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
Chai PW; Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

Chin Med J (Engl) ; 131(19): 2380-2383, 2018 10 05.

Article em En | MEDLINE | ID: mdl-30246734

Assuntos

Blefarofimose/genética; Proteína Forkhead Box L2/genética; Anormalidades da Pele/genética; Anormalidades Urogenitais/genética; Adulto; Criança; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Mutação/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades da Pele / Anormalidades Urogenitais / Blefarofimose / Proteína Forkhead Box L2 Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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