A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

American Journal of Medical Genetics, Part A

Volumn 143, Issue 3, 2007, Pages 258-264

  Majava, Marja ^a   Hoornaert, Kristien P ^b   Bartholdi, Deborah ^c   Bouma, Mieke C ^d   Bouman, Katelijne ^d   Carrera, Marta ^e   Devriendt, Koenraad ^f   Hurst, Jane ^g   Kitsos, George ^h   Niedrist, Dunja ^c   Petersen, Michael B ⁱ   Shears, Debbie ^j   Stolte Dijkstra, Irene ^d   Van Hagen, J M ^k   Ala Kokko, Leena ^a,l   Männikkö, Minna ^a   Mortier, Geert R ^b  

^a UNIVERSITY OF OULU   (Finland)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e Centro de Patologia Celular   (Spain)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF IOANNINA   (Greece)

ⁱ Institute of Child Health   (Greece)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^l Connective Tissue Gene Tests ^*  (United States)

more..

Author keywords

COL11A1; Marshall syndrome; Stickler syndrome

Indexed keywords

ASPARTIC ACID; GLYCINE;

ADOLESCENT; ADULT; CLINICAL ARTICLE; CLINICAL FEATURE; COL11A1 GENE; COLLAGEN DISEASE; DISEASE SEVERITY; FACE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HETEROZYGOSITY; HUMAN; INTRON; MALE; MARSHALL SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SCHOOL CHILD; STICKLER SYNDROME; VITREOUS BODY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE XI; FEMALE; GENETIC DISEASES, INBORN; GENETIC SCREENING; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 33846809282     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31586     Document Type: Review

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