Marshall syndrome and a defect at the COL11A1 locus [4] (multiple letters)

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1558-1559

  Shanske, A ^a   Bogdanow, A ^a   Shprintzen, R J ^a   Marion, R W ^a   Warman, M L ^a   Tiller, G E ^a   Griffith, A J ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; HUMAN; HYPERTELORISM; LETTER; MARSHALL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; STICKLER SYNDROME;

EID: 0032231735     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302110     Document Type: Letter

References (7)

1. S Ayme M Preus The Marshall and Stickler syndromes: objective rejection of lumping J Med Genet 21 1984 34 38
2. AJ Griffith LK Sprunger DA Sirko-Osadsa GE Tiller MH Meisler ML Warman Marshall syndrome associated with a splicing defect at the COL11A1 locus Am J Hum Genet 62 1998 816 823
3. D Marshall Ectodermal dysplasia: report of a kindred with ocular abnormalities and hearing defect Am J Ophthalmol 45 1958 143 156
4. AJ Richards JRW Yates R Williams SJ Payne FM Pope JD Scott MP Snead A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen Hum Mol Genet 5 1996 1339 1343
5. AL Shanske A Bogdanow RJ Shprintzen RW Marion The Marshall syndrome: report of a new family and review of the literature Am J Med Genet 70 1997 52 57
6. J Spranger A Wintderpacht B Zabel The type II collagenopathies: a spectrum of chondrodysplasias Eur J Pediatr 153 1994 56 65
7. M Vikkula ECM Mariman VCH Lui NI Zhidkova GE Tiller MB Goldring SEC van Beersum Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Cell 80 1995 431 437