Kavaslar, GNÖnengüt, SDerman, OKaya, ATolun, A2024-04-242024-04-2420000002-9297https://doi.org/10.1086/302898https://hdl.handle.net/11468/17122We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.eninfo:eu-repo/semantics/openAccess[No Keyword]The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1Article66517051709WOS:0000883737000262-s2.0-00339416791076255410.1086/302898Q1Q1