Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations
Autor: | Michael A. Patton, H. E. Hughes, Marco Tartaglia, Maggie Armstrong, Edgar Janis Lazda, Kristin Becker, Karol Howard, Devender Roberts, John P. Short, Adam Shaw |
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Rok vydání: | 2007 |
Předmět: |
Adult
Male Heterozygote Gestational Age Protein Tyrosine Phosphatase Non-Receptor Type 11 Biology medicine.disease_cause Compound heterozygosity Ultrasonography Prenatal Loss of heterozygosity Fetus Pregnancy Genetics medicine Humans Fetal Death Genetics (clinical) Mutation Noonan Syndrome Intracellular Signaling Peptides and Proteins medicine.disease Osteochondrodysplasia PTPN11 Child Preschool Cancer research Noonan syndrome Early Fetal Death Female Protein Tyrosine Phosphatases |
Zdroj: | American journal of medical genetics. Part A. (11) |
ISSN: | 1552-4825 |
Databáze: | OpenAIRE |
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