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Your search keyword '"Gjørup, Vibike"' showing total 5 results
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5 results on '"Gjørup, Vibike"'

2. Novel TRPV4 variant causes a severe form of metatropic dysplasia.

Author

Graversen, Lise, Haagerup, Annette, Andersen, Brian N., Petersen, Karin K., Gjørup, Vibike, Gudmundsdottir, Gudrun, Vogel, Ida, and Gregersen, Pernille A.

Subjects
DYSPLASIA, EXTREMITIES (Anatomy), CHEST (Anatomy), PHENOTYPES, JOINTS (Anatomy)
Abstract

Key Clinical Message: We present a girl born with a frontal bossing, short neck, bell‐shaped thorax, short limbs with prominent joints, and a tail‐like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysplasia in this patient. [ABSTRACT FROM AUTHOR]

Published
2018
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5. First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.

Author

Støve, Heidi Kristine, Becher, Naja, Gjørup, Vibike, Ramsing, Mette, Vogel, Ida, and Vestergaard, Else Marie

Subjects
FETAL macrosomia, URINARY tract infections, FETUS, URINARY organ diseases, EMBRYOLOGY
Abstract

Key Clinical Message Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked syndrome. Female carriers may have mild manifestations. Macrosomia, polyhydramnios, and kidney and urinary tract anomalies are common findings in male fetuses. We present the first case of a severely affected female fetus with stigmata of SGBS and a deletion involving the GPC3 gene. [ABSTRACT FROM AUTHOR]

Published
2017
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