Partial trisomy of distal 8q derived from mother with mosaic 8q23.3?24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I-Reference-Cited by-同舟云学术

Partial trisomy of distal 8q derived from mother with mosaic 8q23.3?24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I

Published:1989-05 Issue:2 Volume:82 Page:199-201
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Naritomi Kenji,Hirayama Kiyotake

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00284059.pdf

Reference20 articles.

1. Beals RK (1973) Tricho-rhino-phalangeal dysplasia: report of a kindred. J Bone Joint Surg [Am] 55:821?826

2. Bowen P, Biederman B, Hoo JJ (1985) The, critical segment for the Langer-Giedion syndrome: 8q24.11?q24.12. Ann Génét (Paris) 28:224?227

3. Brocas H, Bühler EM, Simon P, Malik NJ, Vassart G (1986) Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Hum Genet 74:178?180

4. Bühler EM, Malik NJ (1984) The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and II syndromes: are they separate entities? Am J Med Genet 19:113?119

5. Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP (1980) Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediatr 133:163?166

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