533 WAGNER-STICKLER SYNDRCME: A GENETIC STUDY
نویسندگان
چکیده
منابع مشابه
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes
PURPOSE Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. A three-generation Caucasian family v...
متن کاملCOL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
AIMS To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome. BACKGROUND Stickler syndrome (hereditary arthro-ophthalmopathy, McKusick Nos 108300 and 184840) is a dominantly inherited disorder of collagen connective tissue, resulting in an abnormal vitreous, myopia, and a variable degree of orofacial abnormality...
متن کاملWagner - Stickler syndrome . gene in a family with Exclusion of COL 2 A 1 as a candidate
A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II coliagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the WagnerStickler syndrome is genetically heterogeneous. In 1938, Wag...
متن کاملPierre Robin sequence: a "Stickler" situation?
HISTORY OF PRESENT ILLNESS The patient was born to a healthy gravida 2, para 2, 27-year-old woman. There was no intrauterine exposure to medications, alcohol, recreational drugs, or tobacco. The infant was delivered vaginally at 38 weeks’ gestation in a local hospital. Her statistics at birth were as follows: weight, 3.58 kg (25th to 50th percentile); length, 51 cm (50th percentile); head circu...
متن کاملWagner–Meerwein-Type Rearrangements of Germapolysilanes - A Stable Ion Study
The rearrangement of tris(trimethylsilyl)silyltrimethylgermane 1 to give tetrakis(trimethylsilyl)germane 2 was investigated as a typical example for Lewis acid catalyzed Wagner-Meerwein-type rearrangements of polysilanes and polygermasilanes. Direct 29Si NMR spectroscopic evidence is provided for several cationic intermediates during the reaction. The identity of these species was verified by i...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00538