Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
J Pediatr
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| Abstract | We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders. |
| Year of Publication | 2013
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| Journal | J Pediatr
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| Volume | 162
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| Issue | 1
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| Pages | 202-4.e1
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| Date Published | 2013 Jan
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| ISSN | 1097-6833
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| URL | |
| DOI | 10.1016/j.jpeds.2012.07.055
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| PubMed ID | 22974575
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| PubMed Central ID | PMC3524393
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| Grant list | K12 HD052896 / HD / NICHD NIH HHS / United States
K23 HD073351 / HD / NICHD NIH HHS / United States
5K12HD052896 / HD / NICHD NIH HHS / United States
UL1 RR025758 / RR / NCRR NIH HHS / United States
UL1 RR 025758 / RR / NCRR NIH HHS / United States
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