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Karen J. Low
Karen J. Low
Medicine
Genetics
HOXD13
Nonsense mutation
Synpolydactyly
3
Papers
13
Citations
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Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay
2019
European Journal of Medical Genetics
Karen J. Low
Julia Baptista
M Babiker
Richard Caswell
Cath King
Sian Ellard
Ingrid Scurr
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Citations (5)
Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.
2017
Clinical Dysmorphology
Karen J. Low
Sherif A. Abdel-Fattah
John Barton
Elizabeth C. Crowne
Mark L. Denbow
Nicola Lerpiniere
Lisa Burvill-Holmes
Ingrid Scurr
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Citations (1)
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.
2012
Clinical Dysmorphology
Karen J. Low
Ruth A. Nwbury-Ecob
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Citations (7)
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