Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting-Reference-Cited by-同舟云学术

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting

Published:2012-08-10 Issue:10 Volume:158A Page:2537-2541
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takenouchi Toshiki,Okuno Hironobu,Kosaki Rika,Ariyasu Daisuke,Torii Chiharu,Momoshima Suketaka,Harada Naoki,Yoshihashi Hiroshi,Takahashi Takao,Awazu Midori,Kosaki Kenjiro

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Holoprosencephaly and split hand/foot: An additional case with this rare association;Abdel-Meguid;Clin Dysmorphol,2001

2. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype;Barber;Eur J Hum Genet,2006

3. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome;Budny;Clin Genet,2010

4. Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35);Corona-Rivera;Am J Med Genet,2000

5. Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2;David;Eur J Hum Genet,2009

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1. Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant;Prenatal Diagnosis;2023-11-27

2. Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report;International Journal of Clinical Pediatric Dentistry;2023-03-21

3. Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss;Cytogenetic and Genome Research;2020

4. Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature;International Journal of Pediatric Otorhinolaryngology;2017-07

5. Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome;Human Genome Variation;2016-10-13