A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability.

Deng, Weiping; Liu, Ruihong; Chen, Mingwei; Zhu, Guoxing; Wang, Yimimg

Deng, Weiping; Liu, Ruihong; Chen, Mingwei; Zhu, Guoxing; Wang, Yimimg.

Afiliação

Deng W; Department of Dermatology and Venereology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences),Southern Medical University, Guangzhou 510080,China.
Liu R; Department of Experimental Medicine, Fifth Affiliated Hospital, SunYat-sen University, Zhuhai 519000, China.
Chen M; Reproductive Medicine Center, The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou 510150,China.
Zhu G; Department of Dermatology and Venereology, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510630, China.
Wang Y; The 5th Affiliated Hospital, Sun Yat Sun University, Zhuhai, 519000, PR China.

Eur J Dermatol ; 33(4): 426-428, 2023 08 01.

Article em En | MEDLINE | ID: mdl-37823494

Assuntos

Ictiose Lamelar; Deficiência Intelectual; Humanos; Ictiose Lamelar/complicações; Ictiose Lamelar/genética; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Mutação; Transglutaminases/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Dermatol Ano de publicação: 2023 Tipo de documento: Article

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