Robust identification of mosaic variants in congenital heart disease
نویسندگان
چکیده
منابع مشابه
Congenital Heart Disease and Pregnancy
ضایعات مادرزادی قلب خط مشی های گوناگونی از قبیل مراقبت دقیق بیماران باردار تا پیشگیری از بارداری و یا خاتمه آن را در زنان سن باروری ایجاب می کند. با پیشرفت روشهای درمان جراحی و دارویی در تصحیح و یا بر طرف کردن علایم بیماری مادرزادی، اکنون بسیاری از زنان مبتلا به مرحله باروری رسیده و باردار می شوند. اداره موفقیت آمیز این زنان در طی بارداری و بلافاصله بعد از زایمان به همکاری نزدیک بین متخصصین ...
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Dear Editor-in-Chief: I read and enjoyed your stylish article, "Frequency of Congenital Cardiac Malformations in Neonates with Congenital Hypothyroidism", in relation to heart disease with hypothyroidism. As we know, one of the most commonly associated congenital hypothyroidism disorders is congenital heart disease, which has a significant effect on the recovery of pat...
متن کاملGATA4 sequence variants in patients with congenital heart disease.
BACKGROUND Recent reports have identified mutations in the transcription factor GATA4 in familial cases of cardiac septal defects. The prevalence of GATA4 mutations in the population of patients with septal defects is unknown. Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have GATA4...
متن کاملHematologic Abnormalities in Cyanotic Congenital Heart Disease Patients
Introduction:Patients with cyanotic heart disease may have an acceptable quality of life. However, they are invariably prone to several complications. The aim of this study is search about hematologic abnormalities in cyanotic congenital heart disease patients. Materials and Methods: In this cross sectional study every cyanotic congenital heart disease patients who was referred to the adult co...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2018
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-018-1871-6