title: Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.
authors.affiliation: 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
authors.forename: Kristin
authors.initials: K
authors.lastname: Becker
authors.forename: Helen
authors.initials: H
authors.lastname: Hughes
authors.forename: Karol
authors.initials: K
authors.lastname: Howard
authors.forename: Maggie
authors.initials: M
authors.lastname: Armstrong
authors.forename: Devender
authors.initials: D
authors.lastname: Roberts
authors.forename: Edgar J
authors.initials: EJ
authors.lastname: Lazda
authors.forename: John P
authors.initials: JP
authors.lastname: Short
authors.forename: Adam
authors.initials: A
authors.lastname: Shaw
authors.forename: Michael A
authors.initials: MA
authors.lastname: Patton
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
mesh_terms: 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
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases