We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimat...
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by...
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disa...
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotoni...
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phe...
Copyright © 2014 Giorgia Mandrile et al. This is an open access article distributed under the Creati...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
IF 3.016International audienceRecurrent deletions and duplications at the 2q13 locus have been assoc...
Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, ar...
BACKGROUND: Rearrangements of unstable DNA sequences may alter the structural integrity or the copy ...
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and P...
International audienceIn recent years, the introduction of novel genome analysis technologies (such ...
Background: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome....
Abstract Background The 15q11‐q13 region contains three breakpoints (BP1 to BP3), and copy number va...
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimat...
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by...
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disa...
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotoni...
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phe...
Copyright © 2014 Giorgia Mandrile et al. This is an open access article distributed under the Creati...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
IF 3.016International audienceRecurrent deletions and duplications at the 2q13 locus have been assoc...
Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, ar...
BACKGROUND: Rearrangements of unstable DNA sequences may alter the structural integrity or the copy ...
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and P...
International audienceIn recent years, the introduction of novel genome analysis technologies (such ...
Background: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome....
Abstract Background The 15q11‐q13 region contains three breakpoints (BP1 to BP3), and copy number va...
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimat...
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by...
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disa...
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