Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.
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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… read more here.
Keywords: congenital neutropenia; elane; severe congenital; girl severe ... See more keywords
A 6‐year‐old girl with severe, focal Mycoplasma pneumoniae pneumonia
Sign Up to like & getrecommendations! 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… read more here.
Keywords: old girl; medicine; severe focal; year old ... See more keywords
Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome
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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… read more here.
Keywords: kidney transplantation; severe phenotype; pierson syndrome; syndrome ... See more keywords