Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene

American Journal of Human Genetics

Volumn 66, Issue 2, 2000, Pages 368-377

  Melkoniemi, Miia ^a   Brunner, Han G ^b   Manouvrier, Sylvie ^c   Hennekam, Raoul ^d   Superti Furga, Andrea ^e   Kääriäinen, Helena ^f   Pauli, Richard M ^g   Van Essen, Ton ^h   Warman, Matthew L ⁱ   Bonaventure, Jacky ^j   Miny, Peter ^k   Ala Kokko, Leena ^a  

^a UNIVERSITY OF OULU   (Finland)

^b Department of Human Genetics   (Netherlands)

^c Centre Hospitalier Régional de Lille   (France)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f Vaestoliitto   (Finland)

^g UNIVERSITY OF WISCONSIN MADISON   (United States)

^h UNIVERSITY OF GRONINGEN   (Netherlands)

ⁱ CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 11;

ADULT; AMINO ACID SUBSTITUTION; ANTEVERTED NOSTRIL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CHILD; CLEFT PALATE; CLINICAL ARTICLE; EPIPHYSIS DISEASE; FACE MALFORMATION; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIMB MALFORMATION; MALE; MANDIBLE HYPOPLASIA; MARSHALL SYNDROME; PEDIGREE; PRIORITY JOURNAL; SHORT NOSE; STICKLER SYNDROME; SYNDROME OSMED;

EID: 0033912523     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302750     Document Type: Article

References (30)

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23. th International Congress of Human Genetics, Berlin, September 22-26
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