A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin.

Autor: Litz Philipsborn S; Medical Genetics Institute, Meir Medical Center, Kfar-Saba, Israel., Hartmajer S; Medical Genetics Institute, Meir Medical Center, Kfar-Saba, Israel., Shtorch Asor A; Medical Genetics Institute, Meir Medical Center, Kfar-Saba, Israel., Vinovezky M; Medical Genetics Institute, Meir Medical Center, Kfar-Saba, Israel., Regev M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Israel., Singer A; Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel., Reinstein E; Medical Genetics Institute, Meir Medical Center, Kfar-Saba, Israel.; Sackler School of Medicine, Tel Aviv University, Israel.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2021 May; Vol. 185 (5), pp. 1610-1613. Date of Electronic Publication: 2021 Feb 15.
DOI: 10.1002/ajmg.a.62119
Databáze: MEDLINE
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