Results 141 to 150 of about 69,185 (238)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

open access: yesMovement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet   +47 more
wiley   +1 more source

Respiratory Syncytial Virus (RSV): A Comprehensive Overview From Basic Biology to Clinical Prevention and Control

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT Respiratory syncytial virus (RSV) is a common virus that causes respiratory infections, posing a serious threat, particularly to infants, the elderly, and individuals with compromised immune systems. As the leading cause of lower respiratory tract infections (LRTIs) in infants, RSV is responsible for millions of cases worldwide each year.
Jie Shi   +6 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

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