Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition-Reference-Cited by-同舟云学术

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition

Published:2015-09-03 Issue:12 Volume:167 Page:3153-3160
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ashraf Tazeen¹,Collinson Morag N.²,Fairhurst Joanna³,Wang Rubin⁴,Wilson Louise C.⁴,Foulds Nicola⁵

Affiliation:

1. Guy's Clinical Genetics Service; Guy's Hospital; London United Kingdom

2. Wessex Regional Genetics Laboratory; Salisbury NHS Foundation Trust; Salisbury Wiltshire United Kingdom

3. Radiology Department; University Hospital Southampton NHS Foundation Trust; Southampton Hampshire United Kingdom

4. North East Thames Regional Genetics Service; Great Ormond Street Hospital for Children NHS Foundation Trust; London United Kingdom

5. Wessex Clinical Genetics Service; University Hospital Southampton NHS Foundation Trust; Southampton Hampshire United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37336/fullpdf

Reference20 articles.

1. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture;Berndt;Nat Genet,2013

2. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25;Burkardt;Am J Med Genet Part A,2011

3. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip-palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24);Callier;Eur J Med Genet,2007

4. Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion;Chaabouni;Eur J Med Genet,2006

5. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q);Della Monica;Am J Med Genet Part A,2007

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