An intronic mutation inDKC1in an infant with Høyeraal-Hreidarsson syndrome-Reference-Cited by-同舟云学术

An intronic mutation inDKC1in an infant with Høyeraal-Hreidarsson syndrome

Published:2008-08-15 Issue:16 Volume:146A Page:2159-2161
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pearson Toni,Curtis Fiona,Al-Eyadhy Ayman,Al-Tamemi Salem,Mazer Bruce,Dror Yigal,Abish Sharon,Bale Sherri,Compton John,Ray Reena,Scott Patrick,Der Kaloustian Vazken M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

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3. A case of Høyeraal-Hreidarsson syndrome: Delayed myelination and hypoplasia of corpus callosum are other important signs;Akaboshi;Neuropediatrics,2000

4. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia;Berthet;Eur J Pediatr,1994

5. A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome;Cossu;Br J Haematol,2002

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