L

 

Liang-Wang sendromu

Kalıtsal- AD

Kraniofasiyal malformasyonlar

Hipertelorizm

Strabismus

Nistagmus

Yayvan burun kökü

Ağız büyük

Kalın altdudak

Gingival hiperplazi

Dil anomalisi

Aorta anevrizması

Santral sinir sistemi malformasyonları

Hipotoni

Ataksi

Tremor

Bulguların çok güçlü olduğu A-grubu fenotipi

A-grubu fenotipinde ek bulgular

 

  • Meredit AL, Thorneloe KS, Werner ME, et al. Overactive bladder and incontinence in the absence of the BK large conductance Ca(2+)-activated K+ channel. Journal of Biological Chemistry, 279:36746-36752, 2004

  • Sausbier M, Hu H, Arntz C, et al. Cerebellar ataxia and Purkinje cell dysfunction caused by Ca(2+)-activated K(+) channel deficiency. Proceedings of the National Academy of Sciences, 101: 9474-9478, 2004

  • Liang L, Li X, Moutton S, et al. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. Human Molecular Genetics, 28: 2937-2951, 2019