Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22-Reference-Cited by-同舟云学术

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

Published:2004 Issue:2 Volume:130A Page:196-199
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Battini R.,Battaglia A.,Bertini V.,Cioni G.,Parrini B.,Rapalini E.,Simi P.,Tinelli F.,Valetto A.

Publisher

Wiley

Subject

Genetics (clinical)

Reference27 articles.

1. American Psychiatric Association. 1995. Diagnostic and statistical manual of mental disorders, 4th edn. Washington, DC: American Psychiatric Association. pp 67-80.

2. Spettroscopia RM protonica a Voxel singolo nello studio delle malattie della sostanza bianca in età pediatrica

3. Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

4. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

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