Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.

Won, Joon Yeon; Kim, Dayeon; Park, Seon Young; Lee, Hye Ran; Lim, Jong-Seok; Park, Jong Hoon; Song, Mi Hyun; Song, Hae Ryong; Kim, Ok-Hwa; Kim, Yonghwan; Cho, Tae-Joon

Won, Joon Yeon; Kim, Dayeon; Park, Seon Young; Lee, Hye Ran; Lim, Jong-Seok; Park, Jong Hoon; Song, Mi Hyun; Song, Hae Ryong; Kim, Ok-Hwa; Kim, Yonghwan; Cho, Tae-Joon.

Afiliação

Won JY; Department of Biological Sciences, Sookmyung Women's University, 100 Cheongpa-ro 47-gil, Yongsan-gu, Seoul, 04310, Republic of Korea.
Kim D; Department of Biological Sciences, Sookmyung Women's University, 100 Cheongpa-ro 47-gil, Yongsan-gu, Seoul, 04310, Republic of Korea.
Park SY; Department of Biological Sciences, Sookmyung Women's University, 100 Cheongpa-ro 47-gil, Yongsan-gu, Seoul, 04310, Republic of Korea.
Lee HR; Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Lim JS; Department of Biological Sciences, Sookmyung Women's University, 100 Cheongpa-ro 47-gil, Yongsan-gu, Seoul, 04310, Republic of Korea.
Park JH; Department of Biological Sciences, Sookmyung Women's University, 100 Cheongpa-ro 47-gil, Yongsan-gu, Seoul, 04310, Republic of Korea.
Song MH; Department of Orthopaedic Surgery, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 08308, Republic of Korea.
Song HR; Department of Orthopaedic Surgery, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 08308, Republic of Korea.
Kim OH; Department of Radiology, Woorisoa Children's Hospital, 15 Saemal-ro, Guro-gu, Seoul, 08291, Republic of Korea.
Kim Y; Department of Biological Sciences, Sookmyung Women's University, 100 Cheongpa-ro 47-gil, Yongsan-gu, Seoul, 04310, Republic of Korea. yhkim@sookmyung.ac.kr.
Cho TJ; Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. tjcho@snu.ac.kr.

BMC Med Genet ; 20(1): 70, 2019 05 03.

Article em En | MEDLINE | ID: mdl-31053099

Assuntos

Doenças Genéticas Ligadas ao Cromossomo X/genética; Proteínas de Membrana Transportadoras/genética; Osteocondrodisplasias/genética; Fatores de Transcrição/genética; Adolescente; Humanos; Masculino; Pessoa de Meia-Idade

Palavras-chave

Gene expression; Skeletal dysplasia; TRAPPC2; X-linked spondyloepiphyseal dysplasia tarda

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Proteínas de Membrana Transportadoras / Fatores de Transcrição / Doenças Genéticas Ligadas ao Cromossomo X Limite: Adolescent / Humans / Male / Middle aged Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google