A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

BACKGROUND: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus–Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. METHODS: We...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Chanchani, Swati R., Xie, Hongyan, Sekhon, Gurbax, Melikishvili, Ana M., Moyer Harasink, Sue, Pall, Harpreet, Giampietro, Philip F.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2020
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057127/
https://ncbi.nlm.nih.gov/pubmed/31951325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1078
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