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Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
Primary pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation of surfactant in the lungs that is presumed to be mediated by disruption of granulocyte/macrophageExpand
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Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships
Purpose:The purpose of this study was to document the ability of single-nucleotide polymorphism microarray to identify copy-neutral regions of homozygosity, demonstrate clinical utility of regions ofExpand
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A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene
The frontonasal dysplasias are a group of craniofacial phenotypes characterized by hypertelorism, nasal clefting, frontal bossing, and abnormal hairline. These conditions are caused by recessiveExpand
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Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2‐5q35.3: An association with Hunter–McAlpine syndrome?
We report on an infant with tetrasomy of 5q35.2‐5q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter–McAlpine syndromeExpand
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The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center
Microarray testing has revolutionized clinical cytogenetics, as it provides a significantly higher resolution and greater clinical yield than karyotype analysis. This study assessed the clinicalExpand
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Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation
We report on a male neonate with prenatally diagnosed mosaicism for a supernumerary marker chromosome and multiple congenital anomalies. Prenatal ultrasound imaging revealed a heart defect, pleuralExpand
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