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Sabrina Neri
Danish Epilepsy Centre
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SCHOLARLY PAPERS
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Scholarly Papers (1)
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1.
Expanding the Pre- and Postnatal Phenotype of WASHC5 and CCDC22 -Related Ritscher-Schinzel Syndromes
Number of pages: 15
Posted: 31 May 2022
Sabrina Neri,
Nuno Maia
,
Ana M. Fortuna
,
Joana Damasio
,
Elizabeth Coale
,
Mary Willis
,
Paula Jorge
,
Anne F. Højte
,
Christina D. Fenger
,
Rikke S. Møller
and
Allan Bayat
Danish Epilepsy Centre, Universidade do Porto - Centro Hospitalar Universitário do Porto, Universidade do Porto - Unit for Multidisciplinary Research in Biomedicine (UMIB), Universidade do Porto - Unit for Multidisciplinary Research in Biomedicine (UMIB), University of Washington - Medical Center, Naval Medical Center San Diego, Universidade do Porto - Centro Hospitalar Universitário do Porto, Danish Epilepsy Centre, Danish Epilepsy Centre, Danish Epilepsy Centre and Danish Epilepsy Centre
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Abstract:
RTSCS, prenatal ultrasound, nuchal thickening, short nasal bridge, facial dismorphisms
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