Sumathipala D, Holmgren A, Larsen S. M., Misceo D, Frengen E, Strømme P Novel
Publication year: 2016

Sumathipala D, Holmgren A, Larsen S. M., Misceo D, Frengen E, Strømme P Novel homozygous frameshift variant outside the SAND domain of DEAF1 resulting in developmental delay, microcephaly and extrapyramidal symptoms. 29th Annual course in Medical Genetics May 2016, Organised by the European School of Medical Genetics, Bertinoro, Italy

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