Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

E-ISSN： 1399-0004|87|4|362-367

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.87, Iss.4, 2015-04, pp. : 362-367

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

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype–Phenotype Correlations

HUMAN MUTATION, Vol. 36, Iss. 9, 2015-09 ,pp. : 881-893

John Wiley & Sons Inc

Access to resources Recommend Favorite

The Effects of PMM2‐CDG‐Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

HUMAN MUTATION, Vol. 36, Iss. 9, 2015-09 ,pp. : 851-860

John Wiley & Sons Inc

Access to resources Recommend Favorite

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

By Suarez-Artiles Lorena Perdomo-Ramirez Ana Ramos-Trujillo Elena Claverie-Martin Felix

Genes, Vol. 9, Iss. 1, 2018-01 ,pp. : 15-15

MDPI

Access to resources Recommend Favorite

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

CLINICAL GENETICS, Vol. 87, Iss. 5, 2015-05 ,pp. : 455-460

John Wiley & Sons Inc

Access to resources Recommend Favorite

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

HUMAN MUTATION, Vol. 39, Iss. 2, 2018-02 ,pp. : 219-236

John Wiley & Sons Inc

Access to resources Recommend Favorite