Literature DB >> 3351909

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

H Santos1, J Mateus, M J Leal.   

Abstract

An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.

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Year:  1988        PMID: 3351909      PMCID: PMC1015489          DOI: 10.1136/jmg.25.3.204

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  Hirschsprung's disease and congenital deafness.

Authors:  R Skinner; D Irvine
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

2.  Waardenburg's syndrome associated with total aganglionosis.

Authors:  P A Farndon; A Bianchi
Journal:  Arch Dis Child       Date:  1983-11       Impact factor: 3.791

3.  Meningomyelocele and Hirschprung disease: theoretical and clinical significance.

Authors:  R G Merkler; S B Solish; A L Scherzer
Journal:  Pediatrics       Date:  1985-08       Impact factor: 7.124

4.  Neuroblastoma and Hirschsprung's disease.

Authors:  R Carachi; A W Auldist; C W Chow
Journal:  Z Kinderchir       Date:  1982-01

5.  Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy.

Authors:  K M Laurence; R Prosser; I Rocker; J F Pearson; C Richard
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

  5 in total
  11 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

Review 3.  Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review.

Authors:  Alejandro D Hofmann; Johannes W Duess; Prem Puri
Journal:  Pediatr Surg Int       Date:  2014-06-29       Impact factor: 1.827

4.  Hirschsprung's disease, distinctive facies, and microcephaly.

Authors:  A Bankier
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

Review 5.  Hirschsprung's disease: genetic mutations in mice and men.

Authors:  K Robertson; I Mason; S Hall
Journal:  Gut       Date:  1997-10       Impact factor: 23.059

Review 6.  Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2012-09-23       Impact factor: 1.827

7.  Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.

Authors:  Toshihiro Uesaka; Mayumi Nagashimada; Shigenobu Yonemura; Hideki Enomoto
Journal:  J Clin Invest       Date:  2008-05       Impact factor: 14.808

Review 8.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

Review 9.  Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.

Authors:  Fumiaki Toki; Norio Suzuki; Ken Inoue; Makoto Suzuki; Kyoko Hirakata; Kyoko Nagai; Minoru Kuroiwa; James R Lupski; Yoshiaki Tsuchida
Journal:  Pediatr Surg Int       Date:  2003-12-23       Impact factor: 1.827

10.  Renal aplasia in humans is associated with RET mutations.

Authors:  Michael A Skinner; Shawn D Safford; Justin G Reeves; Margaret E Jackson; Alex J Freemerman
Journal:  Am J Hum Genet       Date:  2008-01-31       Impact factor: 11.025

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