Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

Author:

Maroteaux P.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference7 articles.

1. Agematsu K, Koike K, Morosawa H, Nakahori Y, Nakagome Y, Akabane T (1988) Chondrodysplasia punctata with X/Y translocation. Hum Genet 80:105?107

2. Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G (1988) X/Y Translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet 34:31?37

3. Curry CJR, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow J, Mohandas T, Bergner EA, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1011?1015

4. Fossion J, Lemiere B, Lorenzo R, Spehl M, Litvin B (1985) Chondrodysplasia punctata. J Belge Radiol 68:299?303

5. Garcia P, Palix C, Coignet J (1985) La maladie des épiphyses ponctuées (á propos de deux cas personnels). Le Pédiatre 21:287?295

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