Results for:
"
Rapadilino_syndrome
" in Documents
- RAPADILINO syndrome.
- We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.
-
Rating:
Views: ()
Pages: ()
Uploaded: 1992-12-1
- A patient with Rothmund-Thomson syndrome and all features of RAPADILIN...
- BACKGROUND: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAd...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2005-5-18
- RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as mai...
- A new malformation syndrome is described in a pair of sibs and 3 sporadic patients. The characteristic manifestations are radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patella...
-
Rating:
Views: (1)
Pages: ()
Uploaded: 1989-7-1
- Molecular defect of RAPADILINO syndrome expands the phenotype spectrum...
- The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN mutate...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2003-9-4
- The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Ge...
- The RecQ family of DNA helicases is highly conserved throughout evolution and plays an important role in the maintenance of genomic stability in all organisms. Mutations in three of the five known fam...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2007-3-17
- RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, inte...
- The Rothmund-Thomson syndrome (growth retardation, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome are caused by mutations in the RECQL4 gene. The 133 kDa RECQL4 is a puta...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2004-8-20
- RAPADILINO syndrome: a multiple malformation syndrome with radial and ...
-
Rating:
Views: ()
Pages: ()
Uploaded: 1999-7-21