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Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1670724
Abstract: We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2…
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Keywords:
congenital neutropenia;
elane;
severe congenital;
girl severe ... See more keywords
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Published in 2019 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.14141
Abstract: A 6-year-old girl with severe, focal Mycoplasma pneumoniae pneumonia Laila S Al Yazidi, Hina Hameed, Alison Kesson, Aruna Herath, Chetan Pandit and Philip Britton Infectious Diseases and Microbiology Department, and Department of Respiratory Medicine, Children’s…
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Keywords:
old girl;
medicine;
severe focal;
year old ... See more keywords
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Published in 2021 at "Nephron"
DOI: 10.1159/000516247
Abstract: Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in…
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Keywords:
kidney transplantation;
severe phenotype;
pierson syndrome;
syndrome ... See more keywords