Metaphyseal anadysplasia: Evidence of genetic heterogeneity

American Journal of Medical Genetics

Volumn 82, Issue 1, 1999, Pages 43-48

  Nishimura, Gen ^a   Ikegawa, Shiro ^b   Saga, Takeshi ^c   Nagai, Toshiro ^c   Aya, Misaki ^d   Kawano, Toshio ^e  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KEIO UNIVERSITY   (Japan)

^e NATIONAL CHILDREN S HOSPITAL   (Japan)

Author keywords

Autosomal dominant; COL10A1; Metaphyseal anadysplasia; Metaphyseal dysplasia; Skeletal dysplasia; Type X collagen

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CHILD; FEMALE; GENETIC HETEROGENEITY; HUMAN; MALE; METAPHYSIS; PRIORITY JOURNAL; VERTICAL TRANSMISSION; X CHROMOSOME LINKED DISORDER;

ADULT; BODY HEIGHT; BODY WEIGHT; FEMALE; GENETIC HETEROGENEITY; GENOMIC IMPRINTING; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 0032918851     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990101)82:1<43::AID-AJMG9>3.0.CO;2-I     Document Type: Article

References (9)

1. Beluffi G, Fiori P, Schifino A, Notarangelo LD, Giardini D, Bozzola M, Montanari C, Martini A. 1982. Metaphyseal dysplasia, type Schmid. In: Papadatos CJ, Bartsocas CS, editors. Skeletal dysplasia. New York: Alan R. Liss. p 103-110.
2. Ikegawa S, Nakamura K, Nagano A, Haga N, Nakamura Y. 1997. Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Hum Mutat 9:131-135.
3. Le Merrer M, Maroteaux P. 1997. Regressive metaphyseal dysplasia: further delineation. In: Lachman RS, Rimoin DL, editors. The 3rd International Skeletal Dysplasia Meeting.
4. Maroteaux P, Verloes A, Stanescu V, Stanescu R. 1991. Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course. Am J Med Genet 39:4-10.
5. Schipani E, Kruse K, Juppner H. 1995. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100.
6. Sulsalo T, Sistonen P, Hastbacka J, Wadelius C, Makitie O, de la Chapelle A, Kaitila I. 1993. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 3:338-341.
7. Warman ML, Abbott M, Apte M, Hefferson T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA. 1993. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet 5:79-82.
8. Wiedemann HR. 1992. Metaphyseal anadysplasia: Observation of a patient from infancy to the fifth decade of life. Dysmorphol Clin Genet 6:123-127.
9. Wiedemann HR, Spranger J. 1970. Chondrodysplasia metaphysaria (Dysostosis metaphysaria - ein neuer Typ? Z Kinderheilkd 108:171-186.