Literature DB >> 8960501

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

M C Digilio, B Marino, A Giannotti, B Dallapiccola.   

Abstract

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Year:  1997        PMID： 8960501     DOI： 10.1007/s002469900116

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


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  8 in total

1.  HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

Authors:  V A MCKUSICK; R L BAUER; C E KOOP; R B SCOTT
Journal:  JAMA       Date:  1964-09-14       Impact factor: 56.272

2.  [Not Available].

Authors:  R AKOUN; M BAGARD
Journal:  Alger Medicale       Date:  1956-10

3.  The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

4.  Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

5.  Partial endocardial cushion defect and persistence of the left superior vena cava draining into the left atrium in a 34-year-old man with features of the Kaufman and Marfan syndromes.

Authors:  R E Pyeritz; J O Humphries
Journal:  Johns Hopkins Med J       Date:  1980-01

6.  Post-axial hexodactily and single atrium: a new syndrome?

Authors:  T Onat
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

7.  Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.

Authors:  S E Levin; R Dansky; S Milner; A Benatar; K Govendrageloo; J du Plessis
Journal:  Pediatr Cardiol       Date:  1995 Sep-Oct       Impact factor: 1.655

8.  Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Authors:  D Chitayat; S Y Hahm; R W Marion; G S Sachs; D Goldman; R G Hutcheon; R Weiss; S Cho; H M Nitowsky
Journal:  Am J Dis Child       Date:  1987-10
  8 in total
  5 in total

1.  Syndrome of hexodactily and single atrium.

Authors:  T Onat
Journal:  Pediatr Cardiol       Date:  1998 Sep-Oct       Impact factor: 1.655

Review 2.  Hydrometrocolpos etiology and management: past beckons the present.

Authors:  Kashish Khanna; Shilpa Sharma; D K Gupta
Journal:  Pediatr Surg Int       Date:  2017-11-24       Impact factor: 1.827

3.  Oral manifestations of Ellis-van Creveld syndrome.

Authors:  Ritesh Kalaskar; Ashita R Kalaskar
Journal:  Contemp Clin Dent       Date:  2012-04

4.  Chondroectodermal dysplasia: a rare syndrome.

Authors:  Dana Tahririan; Alireza Eshghi; Pirooz Givehchian; Mohammad Ali Tahririan
Journal:  J Dent (Tehran)       Date:  2014-05-31

Review 5.  Guidelines for genetic skeletal dysplasias for pediatricians.

Authors:  Sung Yoon Cho; Dong-Kyu Jin
Journal:  Ann Pediatr Endocrinol Metab       Date:  2015-12-31
  5 in total

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