A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Autor: Annemarie Haeberli, Alessandra Ferrarini, Luisa Bonafé, Jean-Marc Nuoffer, André Schaller, Sabina Gallati, M F Bauer, Hassib Chehade, Frédéric Barbey, Christel Tran, Christopher B. Jackson, Dagmar Hahn, Sandra Eggimann, Urania Kotzaeridou

Publikováno v: Europe PubMed Central
Jackson, Christopher; Bauer, M F; Schaller, André; Kotzaeridou, U; Ferrarini, A; Hahn, Dagmar Karen; Chehade, H; Barbey, F; Tran, C; Gallati, S; Haeberli, Annemarie; Eggimann, S; Bonafé, L; Nuoffer, Jean-Marc (2016). A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. European journal of pediatrics, 175(4), pp. 517-525. Springer 10.1007/s00431-015-2661-y

We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retard

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22aa43936f73c3cab22180f3c283bedb
https://doi.org/10.1007/s00431-015-2661-y