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Genetic Markers of Spina Bifida in an Indian Cohort

OBJECTIVE: To identify the genetic markers of spina bifida through a systematic survey of the exome in an Indian cohort. MATERIALS AND METHODS: Three consecutive patients (P1: 1 year, male; P2: 2.8 years, male; and P3: 10 years, female) with spina bifida (lumbosacral meningomyelocele) underwent whol...

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Principais autores: Prabudh Goel, Mahima Sharma, Himani Kaushik, Sourabh Kumar, Harpreet Singh, Vishesh Jain, Anjan Kumar Dhua, Devendra Kumar Yadav, Neeta Kumar, Sandeep Agarwala
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Medknow Publications 2024-09-01
coleção:Journal of Indian Association of Pediatric Surgeons
Assuntos:
gene panel
genetic markers
neural tube defects
spina bifida
whole-exome sequencing
Acesso em linha:https://journals.lww.com/10.4103/jiaps.jiaps_64_24
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