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

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.

Author information

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.
PMID:
30633344
DOI:
10.1111/cge.13490

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