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

Kalfon, Limor; Baydany, Meirav; Samra, Nadra; Heno, Nawaf; Segal, Zvi; Eran, Ayelet; Yulevich, Alon; Fellig, Yakov; Mandel, Hanna; Falik-Zaccai, Tzipora C

Kalfon, Limor; Baydany, Meirav; Samra, Nadra; Heno, Nawaf; Segal, Zvi; Eran, Ayelet; Yulevich, Alon; Fellig, Yakov; Mandel, Hanna; Falik-Zaccai, Tzipora C.

Afiliación

Kalfon L; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Baydany M; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Samra N; The Azrieli Faculty of Medicine, Bar Ilan, Safed, Israel.
Heno N; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Segal Z; The Azrieli Faculty of Medicine, Bar Ilan, Safed, Israel.
Eran A; Department of Pediatrics, Galilee Medical Center, Nahariya, Israel.
Yulevich A; Department of Ophthalmology, Galilee Medical Center, Nahariya, Israel.
Fellig Y; Neuroradiology, Rambam Health Care Campus, and Technion Faculty of Medicine, Haifa, Israel.
Mandel H; Department of Pediatric Surgery, Galilee Medical Center, Nahariya, Israel.
Falik-Zaccai TC; Department of Pathology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

Mol Genet Genomic Med ; 10(1): e1849, 2022 01.

Article en En | MEDLINE | ID: mdl-34970863

Asunto(s)

Hipotonía Muscular; Enfermedades Musculares; Niño; Consanguinidad; Exoma; Familia; Humanos; Hipotonía Muscular/genética; Enfermedades Musculares/genética; Linaje

Palabras clave

consanguineous kindred; hypotonia; whole exome/genome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipotonía Muscular / Enfermedades Musculares Tipo de estudio: Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos

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