Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Contents
Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly...
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Full title
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
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TN_cdi_doaj_primary_oai_doaj_org_article_19625540c407409691464d02ba39f10f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_19625540c407409691464d02ba39f10f
Other Identifiers
ISSN
1824-7288,1720-8424
E-ISSN
1824-7288
DOI
10.1186/s13052-017-0380-x
