Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.
Becker
Kristin
K
North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, and Institute of Medical Genetics, Universiyt Hospital of Wales, Cardiff, UK. Kristin.Becker@cd-tr.wales.nhs.uk
Hughes
Helen
H
Howard
Karol
K
Armstrong
Maggie
M
Roberts
Devender
D
Lazda
Edgar J
EJ
Short
John P
JP
Shaw
Adam
A
Patton
Michael A
MA
Tartaglia
Marco
M
D000328:Adult; D002675:Child, Preschool; D005260:Female; D005313:Fetal Death / Q000201:enzymology* / Q000235:genetics*; D005333:Fetus / Q000201:enzymology; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009634:Noonan Syndrome / Q000201:enzymology* / Q000235:genetics*; D011247:Pregnancy; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D016216:Ultrasonography, Prenatal
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases