Literature DB >> 4003451

Pulmonary and diaphragmatic agenesis: report of affected sibs.

H V Toriello, J V Higgins, A S Jones, L L Radecki.   

Abstract

We report on two sibs with pulmonary and diaphragmatic agenesis, a rare combination of malformations. We conclude that this represents a previously undescribed autosomal recessive condition affecting either multiple developmental fields or a single complex polytopic field.

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Mesh：

Year:  1985        PMID： 4003451     DOI： 10.1002/ajmg.1320210113

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Familial occurrence of congenital diaphragmatic hernia : Father-to-son inheritance.

Authors:  J P Janik; J S Janik; E R Wayne; A Pantoja
Journal:  Pediatr Surg Int       Date:  2013-09-21       Impact factor: 1.827

2.  Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

Authors:  Barbara R Pober; Angela Lin; Meaghan Russell; Kate G Ackerman; Sharmila Chakravorty; Bernarda Strauss; Marie Noel Westgate; Jay Wilson; Patricia K Donahoe; Lewis B Holmes
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

Review 3.  Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Authors:  Barbara R Pober
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-05-15       Impact factor: 3.908
  3 in total

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