A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions-Reference-Cited by-同舟云学术

A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions

Published:2017-01 Issue:1 Volume:26 Page:33-37
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Córdova-Fletes Carlos,Rivera Horacio,Garza-Villarreal Eduardo A.,Vázquéz-Cárdenas Norma A.,Martínez-Jacobo Lizeth A.,Moreno-Andrade Talia

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients;Ballarati;J Med Genet,2007

2. Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria;Bartholdi;Am J Med Genet A,2013

3. Genetic analyses of a three generation family segregating hirschsprung disease and iris heterochromia;Cui;PLoS One,2013

4. Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1);Grati;Am J Med Genet A,2009

5. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter;Kirchhoff;Am J Med Genet A,2009

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1. Mosaicismos pigmentarios y alteraciones citogenéticas;Piel;2021-11

2. A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene;Journal of Pediatric Genetics;2019-01-14

3. Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion;Journal of Pediatric Ophthalmology & Strabismus;2018-11-19