Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects-Reference-Cited by-同舟云学术

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Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects

Published:2022-09-01 Issue:3 Volume:9 Page:302-306
ISSN:2147-9445
Container-title:The Journal of Pediatric Research
language:
Short-container-title:jpr

Author:

Karamık Gökcen^ORCID,Öztürk Nuray^ORCID,Nur Banu^ORCID,Karasu Gülsün^ORCID,Mıhçı Ercan^ORCID

Publisher

Galenos Yayinevi

Subject

General Medicine

Reference17 articles.

1. Thrombocytopenia with absent radius (TAR);Hall;Medicine (Baltimore),1969

2. Thrombocytopenia-absent radius syndrome: a clinical genetic study;Greenhalgh;J Med Genet,2002

3. Thrombocytopenia-absent radius syndrome;Toriello;Semin Thromb Hemost,2011

4. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome;Klopocki;Am J Hum Genet,2007

5. 5. Houeijeh A, Andrieux J, Saugier-Veber P, et al. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet 2011; 54:e471-7.

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