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Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature

✍ Scribed by Garganta, Cheryl L. ;Bodurtha, Joann N.

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
635 KB
Volume
44
Category
Article
ISSN
0148-7299

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πŸ“œ SIMILAR VOLUMES

Gpc3 expression correlates with the phen
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome
✍ Massimo Pellegrini; Giuseppe Pilia; Serafino Pantano; Franco Lucchini; Manuela U πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 711 KB

Interest in glypican-3 (GPC3), a member of the glypican-related integral membrane heparan sulfate proteoglycans (GRIPS) family, has increased with the finding that it is mutated in the Simpson-Golabi-Behmel overgrowth syndrome (Pilia et al. [1996] Nat. Genet. 12:241-247). The working model suggested

Infantile lethal variant of Simpson-Gola
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis
✍ Terespolsky, D. ;Farrell, S. A. ;Siegel-Bartelt, J. ;Weksberg, R. πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 487 KB πŸ‘ 1 views

to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(S).

GPC3 mutation analysis in a spectrum of
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
✍ Li, Madeline ;Shuman, Cheryl ;Fei, Yan Ling ;Cutiongco, Eva ;Bender, H.A. ;Steve πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 283 KB πŸ‘ 2 views

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.