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Quoted phrase not found in phrase index: "Klippel-Feil syndrome 3, autosomal dominant"
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PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.
Bach MY, Miron SR, Kurolap A, Feldman HB. Bach MY, et al. Am J Med Genet A. 2024 Jun;194(6):e63550. doi: 10.1002/ajmg.a.63550. Epub 2024 Jan 31. Am J Med Genet A. 2024. PMID: 38297485
Klippel-Feil syndrome (KFS) has a genetically heterogeneous phenotype with six known genes, exhibiting both autosomal dominant and autosomal recessive inheritance patterns. ...Pathogenic variants in this gene have been described in Verhei …
Klippel-Feil syndrome (KFS) has a genetically heterogeneous phenotype with six known genes, exhibiting both autosoma …
Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?
Corsello G, Carcione A, Castro L, Giuffrè L. Corsello G, et al. Klin Padiatr. 1990 May-Jun;202(3):176-9. doi: 10.1055/s-2007-1025514. Klin Padiatr. 1990. PMID: 2355722
The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during em …
The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal …