Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy

Autor: R. A. M. Taylor, A. Mackie, Ritu Mogra, J. Pinner, S. Rajendran, Glynis P. Ross

Publikováno v: Diabetic Medicine. 36:252-255

Background Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is a form of diabetes caused by heterozygous inactivating mutations in the GCK gene. Affected individuals maintain their fasting glucose levels at a higher set point (5.4-8.3 mmol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::676ed51f568792cb20d7049147127825
https://doi.org/10.1111/dme.13844

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Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations

Autor: M. Warming Jørgensen, Karl Oliver Kagan, M. Schøler Nørgaard, Olav Bjørn Petersen, J. Pinner, Puk Sandager, V. Gjørup, Ida Vogel, Ritu Mogra

Publikováno v: Schøler Nørgaard, M, Mogra, R, Pinner, J, Kagan, K O, Warming Jørgensen, M, Gjørup, V, Petersen, O B, Sandager, P & Vogel, I 2020, ' Fetal costello syndrome : description of phenotype of HRAS exon 1 mutations ', Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 55, no. 2, pp. 274-275 . https://doi.org/10.1002/uog.20281
Schøler Nørgaard, M, Mogra, R, Pinner, J, Kagan, K O, Warming Jørgensen, M, Gjørup, V, Petersen, O B, Sandager, P & Vogel, I 2020, ' Fetal costello syndrome : A description of the phenotype of HRAS exon 1 mutations ', Ultrasound in Obstetrics & Gynecology, vol. 55, no. 2, pp. 274-275 . https://doi.org/10.1002/uog.20281

This is a description of similar prenatal ultrasound findings in five cases of fetal Costello syndrome from 3 countries. We suggest that Costello syndrome (CS) may be recognizable prenatally, is more prevalent in utero than previously described, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a08bd7e306f1adc52b05b23b1d4e7847
https://doi.org/10.1002/uog.20281

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