Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

Purpose To compare the pattern of gene-specific involvement and the spectrum of variants observed in prenatal and postnatal (mean ± SD, 8.9 ± 9.4 years) cohorts tested for Noonan syndrome and related conditions. Methods Outcomes of sequencing panel testing were compared between prenatal ( n = 845)...

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Veröffentlicht in:	Genetics in medicine 2019-02, Vol.21 (2), p.417-425
Hauptverfasser:	Leach, N. T., Wilson Mathews, D. R., Rosenblum, L. S., Zhou, Z., Zhu, H., Heim, R. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Cardiomyopathy Child Child, Preschool Congenital diseases Defects Female Fetuses Genes Genetic Testing Genetics Genomics Genotype & phenotype Growth hormones Human Genetics Humans Infant Infant, Newborn Kinases Laboratory Medicine Leukemia Mutation Noonan Syndrome - diagnosis Noonan Syndrome - genetics Noonan Syndrome - physiopathology Postnatal Care Pregnancy Prenatal Diagnosis Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics Proteins SOS1 Protein - genetics Ultrasonic imaging
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