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Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are heart defects linked to genetic issues stemming from the heart's development and neural crest disturbances.
- The genetic causes of these conditions are diverse, including chromosomal abnormalities and specific gene mutations that affect heart development.
- Notable mutations involve genes like NKX2-5 and GATA4 for TOF, and TBX1 linked to conditions like DiGeorge syndrome, with research also revealing common genetic variations that increase the risk for TOF.
Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.
Med Arch
October 2023
Department of Neurosurgery, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Background: Aplasia cutis congenita is a heterogeneous disorders group with a rare reported incident of 0.5 to 1 in 10,000 births. ACC can be associated with physical defects or syndrome that may help in diagnosis, prognosis and further evaluation of the patient.
View Article and Find Full Text PDFCase report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn.
Front Pediatr
March 2023
Department of Neurosurgery, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5-1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient.
View Article and Find Full Text PDFUltrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases.
Facts Views Vis Obgyn
January 2015
Department of Obstetrics and Gynaecology, Ghent University Hospital, De Pintelaan 185, 9000 Gent, Belgium.
Objective: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18.
Materials And Methods: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18.
Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study.
J Genet
December 2014
Centre for Genetic Disorders, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221 005, India.
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