A Novel Mutation in the MC2R Gene Causing Familial Glucocorticoid Deficiency Type 1

Publisher： Karger

E-ISSN： 1661-7819|100|3|277-281

ISSN： 1661-7800

Source： Neonatology, Vol.100, Iss.3, 2011-06, pp. : 277-281

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

A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome

By Girisha Katta Bidchol Abdul Sarpangala Murali Satyamoorthy Kapaettu

The Indian Journal of Pediatrics, Vol. 81, Iss. 3, 2014-03 ,pp. : 302-304

Springer Publishing Company

Access to resources Recommend Favorite

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings

By Soares-Fernandes João Teixeira-Gomes Roseli Cruz Romeu Ribeiro Manuel Magalhães Zita Rocha Jaime Leijser Lara

Pediatric Radiology, Vol. 38, Iss. 5, 2008-05 ,pp. : 559-562

Springer Publishing Company

Access to resources Recommend Favorite

A Novel and a Previously Described Compound Heterozygous PKLR Gene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child

By Li Huimin Gu Ping Yao Ru-en Wang Jian Fu Qihua Wang Jing

Fetal and Pediatric Pathology, Vol. 33, Iss. 3, 2014-06 ,pp. : 182-190

Informa Healthcare

Access to resources Recommend Favorite

Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the UDP-glucuronosyltransferase 1A1 Gene

Neonatology, Vol. 109, Iss. 3, 2016-02 ,pp. : 235-238

Karger

Access to resources Recommend Favorite

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation

By Spiegel R. Shaag A. Gutman A. Korman S. Saada A. Elpeleg O. Shalev S.

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 2, 2007-04 ,pp. : 266-266

Springer Publishing Company

Access to resources Recommend Favorite