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Contiguous gene syndrome

National Institutes of Health

Related topics

Related topics

3 relations
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-TypeMiller Dieker syndromeWAGR Syndrome

Papers overview

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2017
2017
Hepatic Malignancy in an Infant with Wolf–Hirschhorn Syndrome
ABSTRACT Introduction: Wolf–Hirschhorn syndrome (WHS) is a contiguous gene syndrome involving deletions of the chromosome 4p16… 
2017
2017
Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease.
2014
2014
End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation
2011
2011
Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a…
The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous… 
2010
2010
A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally
We report on a patient who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal… 
2010
2010
Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.
2005
2005
Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
BACKGROUND Contiguous gene syndrome (CGS) is characterized by a series of clinical features resulting from interstitial or… 
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