Multiplex Ligation-Dependent Probe Amplification Improves the Detection Rate of NKX2.1 Mutations in Patients Affected by Brain-Lung-Thyroid Syndrome

Publisher： Karger

E-ISSN： 1663-2826|77|3|146-151

ISSN： 1663-2818

Source： Hormone Research in Paediatrics, Vol.77, Iss.3, 2012-04, pp. : 146-151

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome

By  

European Thyroid Journal, Vol. 3, Iss. 4, 2014-10 ,pp. : 227-233

Karger

Access to resources Recommend Favorite

Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

By  

Hormone Research in Paediatrics, Vol. 86, Iss. 5, 2016-10 ,pp. : 330-336

Karger

Access to resources Recommend Favorite

Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

By  

Hormone Research in Paediatrics, Vol. 77, Iss. 2, 2012-03 ,pp. : 100-107

Karger

Access to resources Recommend Favorite

Three Novel Mutations in Japanese Patients with 21-Hydroxylase Deficiency

By  

Hormone Research in Paediatrics, Vol. 61, Iss. 3, 2004-03 ,pp. : 126-132

Karger

Access to resources Recommend Favorite

Thyroid Function in Rett Syndrome

By  

Hormone Research in Paediatrics, Vol. 83, Iss. 2, 2015-01 ,pp. : 118-125

Karger

Access to resources Recommend Favorite