Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)-Reference-Cited by-同舟云学术

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

Published:2000-05-29 Issue:3 Volume:92 Page:195-199
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fujita Yasuko,Mochizuki Daishi,Mori Yosuke,Nakamoto Natsue,Kobayashi Masaaki,Omi Kazuhiko,Kodama Hiroko,Yanagawa Yukishige,Abe Toshiaki,Tsuzuku Toshihiro,Yamanouchi Yasuko,Takano Takako

Publisher

Wiley

Subject

Genetics(clinical)

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1. Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2

2. The assay of arylsulphatases A and B in human urine

3. Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

4. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

5. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

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5. Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome;American Journal of Medical Genetics Part A;2014-09-25