Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
description
journal article from 'European Journal of Medical Genetics' published in 2018
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wetenschappelijk artikel
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наукова стаття, опублікована в листопаді 2018
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name
Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
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Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
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type
label
Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
@en
Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
@nl
prefLabel
Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
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Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
@nl
P2093
P50
P921
P1476
Phenotypic spectrum associated ...... and Baraitser-Winter syndromes
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P2093
Ana Carvalho
Carol Saunders
Damien Haye
Daphné Lehalle
Dominique Bonneau
Elena Repnikova
Elizabeth J. Bhoj
Hakon Hakonarson
Ida Bay Lund
P356
10.1016/J.EJMG.2018.11.022
P407
P577
2018-11-22T00:00:00Z