EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Otsuki, Yuki; Ueda, Koichi; Nuri, Takashi; Satoh, Chisei; Maekawa, Ryuta; Yoshiura, Koh-Ichiro

Otsuki, Yuki; Ueda, Koichi; Nuri, Takashi; Satoh, Chisei; Maekawa, Ryuta; Yoshiura, Koh-Ichiro.

Affiliation

Otsuki Y; Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Ueda K; Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Nuri T; Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Satoh C; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Maekawa R; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Yoshiura KI; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Medicine (Baltimore) ; 99(44): e22816, 2020 Oct 30.

Article in En | MEDLINE | ID: mdl-33126320

Subject(s)

Anodontia/blood; Breast/abnormalities; Cleft Palate/blood; Ectodermal Dysplasia/blood; Fingers/abnormalities; Hand Deformities, Congenital/blood; Lacrimal Duct Obstruction/blood; Limb Deformities, Congenital/blood; Nails, Malformed/blood; Pigmentation Disorders/blood; Transcription Factors/analysis; Tumor Suppressor Proteins/analysis; Adolescent; Anodontia/genetics; Cleft Palate/genetics; Ectodermal Dysplasia/genetics; Hand Deformities, Congenital/genetics; Humans; Japan; Lacrimal Duct Obstruction/genetics; Limb Deformities, Congenital/genetics; Male; Mutation/genetics; Nails, Malformed/genetics; Pigmentation Disorders/genetics; Transcription Factors/blood; Tumor Suppressor Proteins/blood

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pigmentation Disorders / Transcription Factors / Breast / Ectodermal Dysplasia / Hand Deformities, Congenital / Cleft Palate / Limb Deformities, Congenital / Tumor Suppressor Proteins / Fingers / Lacrimal Duct Obstruction Limits: Adolescent / Humans / Male Country/Region as subject: Asia Language: En Journal: Medicine (Baltimore) Year: 2020 Type: Article

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