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Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Robert, Smigiela; Anna, Rozensztrauchb; Anna, Walczakd; Małgorzata, Rydzaniczd; Piotr, Stawinskid; Marta, Berghausen-Mazurb; Grażyna, Kostrzewae; Malgorzata, Sasiadekc,,*; Rafal, Ploskid,,*

doi: 10.1097/MCD.0000000000000292
Short Case Reports

Departments of aPaediatrics and Rare Disorders


cGenetics, Wroclaw Medical University, Wroclaw

Departments of dMedical Genetics

eForensic Medicine, Warsaw Medical University, Warsaw, Poland

* Dr. Sasiadek Malgorzata, Professor of medicine and Dr. Ploski Rafal, Professor of medicine contributed equally to the writing of this article.

Received 20 April 2019 Accepted 3 June 2019

Correspondence to Robert Smigiel, Professor of medicine Department of Pediatrics, Wroclaw Medical University, PL 50–368 Wroclaw, Bartla 5, Poland, Tel: +0048 71 784 12 56; fax: +0048 71 784 00 63; e-mail:

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