Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.
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DOI: 10.1016/j.ejmg.2018.08.009
Abstract: Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. In this report, a trio whole-exome sequencing (WES) was performed in proband… read more here.
Keywords: bohring opitz; ciss1 like; btb domain; klhl7 ... See more keywords
Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby
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DOI: 10.1097/md.0000000000028759
Abstract: Abstract Rationale: Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by symptoms that include developmental delay and musculoskeletal… read more here.
Keywords: opitz syndrome; bohring opitz; ivf; ivf baby ... See more keywords