Literature DB >> 2674388

Familial congenital diaphragmatic hernia is an autosomal recessive variant.

D C Hitch1, J A Carson, E I Smith, D C Sarale, O M Rennert.   

Abstract

Forty families that have had more than one sibling with a congenital diaphragmatic hernia have been identified. The 85 children among the 40 families describe a subset of congenital diaphragmatic hernia displaying an autosomal recessive inheritance mode. The chance of a diaphragmatic hernia among siblings within this subset is 25%.

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Year:  1989        PMID： 2674388     DOI： 10.1016/s0022-3468(89)80582-2

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN： 0022-3468            Impact factor:   2.545


  9 in total

1.  Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.

Authors:  S J Mitchell; T Cole; D H Redford
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Diaphragmatic Hernia of the Stomach with Gastric Rupture in a Domestic Pig.

Authors:  Lori R Hill; Steven Y Huang; Mihai Gagea
Journal:  Comp Med       Date:  2016       Impact factor: 0.982

3.  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 4.  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

Review 5.  Clinical presentation and operative repair of hernia of Morgagni.

Authors:  T P F Loong; H M Kocher
Journal:  Postgrad Med J       Date:  2005-01       Impact factor: 2.401

6.  Congenital diaphragmatic hernia in identical twins.

Authors:  Mustafa T Gurbaz; Ahmet Kazez; Unal Bakal; Tugay Tartar; Fikret Ersoz; Yunus Colakoglu
Journal:  J Indian Assoc Pediatr Surg       Date:  2012-01

Review 7.  Congenital diaphragmatic hernia.

Authors:  Juan A Tovar
Journal:  Orphanet J Rare Dis       Date:  2012-01-03       Impact factor: 4.123

8.  Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.

Authors:  Eric L Bogenschutz; Zac D Fox; Andrew Farrell; Julia Wynn; Barry Moore; Lan Yu; Gudrun Aspelund; Gabor Marth; Mark Yandell; Yufeng Shen; Wendy K Chung; Gabrielle Kardon
Journal:  HGG Adv       Date:  2020-08-25

9.  Bowel sounds in the chest: An uncommon presentation of adult hernia.

Authors:  Tahir Majeed; Ajaz Koul; Talib Khan; Sahil Hassan
Journal:  Respir Med Case Rep       Date:  2018-09-10
  9 in total

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