✦ LIBER ✦

PMM2-CDG: Phenotype and genotype in four affected family members

✍ Scribed by Bortot, Barbara; Cosentini, Dora; Faletra, Flavio; Biffi, Stefania; De Martino, Eleonora; Carrozzi, Marco; Severini, Giovanni Maria

Book ID: 121925084
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 288 KB
Volume: 531
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2013.07.083

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cherubism: Review of four affected membe

Cherubism: Review of four affected members in a Kuwaiti family

✍ Petkovska, L ;Ramadan, S ;Aslam, MO 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB

Mild Clinical and Biochemical Phenotype

Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

✍ M. Casado, M. M. O’Callaghan, R. Montero, C. Pérez-Cerda, B. Pérez, P. Briones, 📂 Article 📅 2011 🏛 Springer-Verlag 🌐 English ⚖ 343 KB

HomozygousSMN1 deletions in unaffected f

HomozygousSMN1 deletions in unaffected family members and modification of the phenotype bySMN2

✍ Prior, Thomas W. ;Swoboda, Kathryn J. ;Scott, H. Denman ;Hejmanowski, Ashley Q. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB

LRRK2 and Parkin mutations in a family w

LRRK2 and Parkin mutations in a family with parkinsonism—Lack of genotype–phenotype correlation

✍ Connie Marras; Christine Klein; Anthony E. Lang; Yosuke Wakutani; Danielle Moren 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 73 KB

Autosomal dominant atretic cephalocele w

Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

✍ D.R. Carvalho; L.R. Giuliani; G.N. Simão; A.C. Santos; J.M. Pina-Neto 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 3 views

## Abstract Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheri

Familial mediterranean fever: The segreg

Familial mediterranean fever: The segregation of four different mutations in 13 individuals from one inbred family: Genotype-phenotype correlation and intrafamilial variability

✍ Gershoni-Baruch, Ruth ;Shinawi, Marwan ;Shamaly, Hussein ;Katsinetz, Leah ;Brik, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 61 KB 👁 2 views