Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
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Enzyme
Compound
Query: UMLS:C0011168 (
dysphagia
)
15,644
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to
dysphagia
/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying
c.184T>G (p.Tyr62Asp)
pathogenic variant in
PTPN11
. The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature.
...
PMID:Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. 2967 Jul 95
