PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T.
Yamaguchi T, et al.
Am J Med Genet A. 2019 Jun;179(6):948-957. doi: 10.1002/ajmg.a.61142. Epub 2019 Apr 2.
Am J Med Genet A. 2019.
PMID: 30941898
Review.
The patient was a 12-year-old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal-onset growth impairment, motor developmental delay with hypotonia and myopathy-like muscle pathology, mild facial features, and …
The patient was a 12-year-old girl presenting with congenital multiple contractures, progressive severe scoliosis, pren …