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

• প্রধান লেখক: Gökcen Karamık (লেখক), Nuray Öztürk (লেখক), Banu Nur (লেখক), Gülsün Karasu (লেখক), Ercan Mıhçı (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Galenos Yayinevi, 2022-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are always present. The deletion of the RNA-binding motif...