Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11.

¹ Department of Clinical Genetics, Medical University of Białystok, Białystok, Poland.
² Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM), University of Copenhagen, Copenhagen, Denmark.
³ Clinic of Maxillo-Facial Surgery, Medical University, Białystok, Poland.
⁴ Department of Phonoaudiology and Logopedics, Medical University, Białystok, Poland.
⁵ Department of Ophthalmology, Medical University, Białystok, Poland.
⁶ Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University, Białystok, Poland.
⁷ Department of Radiology, Medical University, Białystok, Poland.
⁸ Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA.
⁹ Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
¹⁰ Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
¹¹ Department of Orthopedics and Traumatology, Medical University of Białystok, Białystok, Poland.

No abstract available

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