陈少科

学术任职

中华预防医学会出生缺陷与控制委员会遗传病学组委员、中华预防医学会全国新生儿疾病筛查学组委员、中华医学会小儿内分泌遗传代谢学组委员，中华预防医学会遗传学组成员，中华医学会广西儿科学分会委员，广西儿科医师学会常委。

文献发表

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
Mol Cytogenet. 2016 May 31;9:41. doi: 10.1186/s13039-016-0251-y.
 
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
BMJ Open. 2016 May 12;6(5):e010719. doi: 10.1136/bmjopen-2015-010719.
 
de novo interstitial deletions at the 11q23.3-q24.2 region.
Mol Cytogenet. 2016 May 5;9:39. doi: 10.1186/s13039-016-0247-7.
 
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.
Clin Chim Acta. 2016 Jul 1;458:30-4. doi: 10.1016/j.cca.2016.04.019.
 
Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):135-9. doi: 10.3760/cma.j.issn.1003-9406.2016.02.002.
 
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Arch Endocrinol Metab. 2016 Feb 16. pii: S2359-39972016005001103.
 
Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China.
Gene. 2016 Feb 10. pii: S0378-1119(16)30067-1. doi: 10.1016/j.gene.2016.02.014.
 
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.
Mol Cell Endocrinol. 2016 Mar 5;423:60-6. doi: 10.1016/j.mce.2016.01.007.
 
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.
Gene. 2016 Feb 15;577(2):187-92. doi: 10.1016/j.gene.2015.11.034.