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Laurence-Moon-Bardet-Biedl Syndrome: A Case Report

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. The major features of this syndrome are cone-rod dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, sp...

詳細記述

保存先:
書誌詳細
出版年:Cureus
主要な著者: Khan, Bilal Ahmed, Shahid, Ashar, Bin Nazir, Maaz, Khan, Kiran Shafiq, Punshi, Avinash
フォーマット: Artigo
言語:Inglês
出版事項: Cureus 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6820889/
https://ncbi.nlm.nih.gov/pubmed/31696011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.5618
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