p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.
about
Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 yearsFreeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaFreeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalitiesRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
P2860
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
p.R672C mutation of MYH3 gene ...... with Freeman-Sheldon syndrome.
@en
type
label
p.R672C mutation of MYH3 gene ...... with Freeman-Sheldon syndrome.
@en
prefLabel
p.R672C mutation of MYH3 gene ...... with Freeman-Sheldon syndrome.
@en
P2093
P2860
P1476
p.R672C mutation of MYH3 gene ...... with Freeman-Sheldon syndrome.
@en
P2093
Iman Hamada
Kristy Damjanovich
Mohammad Al-Haggar
Nermin Ahmad
Pinar Bayrak-Toydemir
Soheir Yahia
P2860
P2888
P304
P356
10.1007/S12098-010-0230-Y
P577
2010-10-06T00:00:00Z
P5875
P6179
1018455584