1998 . Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis . Nat Genet 19 : 70 – 73 .Shears DJ , Vassal HJ , Goodman FR , Palmer RW , Reardon W , Superti-Furga A , Scambler PJ , Winter RM . 1998 . Mutations and deletion of the pseudoautosomal...
Leri-Weill-dyschondrosteosis网络软骨发育不良网络释义 1. 软骨发育不良 Leri-Weill 软骨发育不良 (Leri-Weill dyschondrosteosis): shoxLesch-Nyhan 综合征, (Lesch-Nyhan syndrome,): hprt1 ELISA KIT …www.eiaab.cn|基于1 个网页© 2025 Microsoft 隐私声明和 Cookie 法律声明 广告 帮助 反馈...
2003. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondropla- sia or hypochondroplasia. Am J Med Genet Part A 116A:61- 65.Ross JL, Bellus G, Scott CI Jr, Abboudi J, Grigelioniene G, et al. (2003) Mesomelic and rhizomelic...
P14.03: Prenatal diagnosis and counselling of Leri-Weill dyschondrosteosisdoi:10.1002/uog.15446D. KramerDepartment of Obstetrics and GynecologyR. CrijnsDepartment of Obstetrics and GynecologyC. WillekesDepartment of Obstetrics and GynecologyA. Coumans...
The same gene is involved in the Langer mesomelic dwarfism. dwarfness , achondroplasia , hypochondroplasia , stature in humans , pseudoautosomal , short syndromeSpringer Netherlands
Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic Dysplasiadoi:10.1007/978-1-60327-161-5_56Dyschondrosteosis is an autosomal dominant form of mesomelic dysplasia, first described by Leri and Weill in 1929.Humana Press
Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency. The effect of 24 months of recombinant human growth hormone (rhGH) therapy on the stature and BMD of two ...
Heterozygous carriers of SHOX mutations may be minimally affected or may present with disproportionate short stature, Madelung deformity and other radiographic findings as in Leri-Weill dyschondrosteosis (LWD). In this article, we report on a 14-year old girl with mesomelic short stature and ...
SHOX gene defects and selected dysmorphic signs in patients of idio- pathic short stature and Leri-Weill dyschondrosteosis. Gene. 2012;491:123-127.Hirschfeldova K, Solc R, Baxova A, et al. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-...
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Am J Med Genet. 2001;102(4):353-8.Wei, F., Cheng, S., Badie, N., et al. (2001). A man who inherited his SRY gene and Leri-Weill dyschondrosteosis...