Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

BACKGROUND: We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia. METHODS: Clinical investigations, homozygosity mapping, linkage analyses and whole exome sequencing, were performed. mRNA a...

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Detalles Bibliográficos
Autores principales: Kalfon, Limor, Baydany, Meirav, Samra, Nadra, Heno, Nawaf, Segal, Zvi, Eran, Ayelet, Yulevich, Alon, Fellig, Yakov, Mandel, Hanna, Falik‐Zaccai, Tzipora C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801141/
https://www.ncbi.nlm.nih.gov/pubmed/34970863
http://dx.doi.org/10.1002/mgg3.1849

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801141/
https://www.ncbi.nlm.nih.gov/pubmed/34970863
http://dx.doi.org/10.1002/mgg3.1849

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