Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
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England: BioMed Central
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English
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England: BioMed Central
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SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid app...
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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4022398
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4022398
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ISSN
1471-2350,1471-2156
E-ISSN
1471-2350,1471-2156
DOI
10.1186/1471-2350-15-51
