Literature DB >> 7645594

Familial occurrence of patent ductus arteriosus.

L J Sletten1, M E Pierpont.   

Abstract

We describe 7 relatives with patent ductus arteriosus (PDA) and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thickened lips, and apparently slightly low-set ears. Autosomal dominant inheritance is suggested in this family. Other families where affected members have PDA and a similar facial appearance and autosomal dominant inheritance were described previously by Char [1978: BD:OAS XIV (6B):303-305] and Temple [1992: Clin Dysmorphol 1:17-21].

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Year:  1995        PMID: 7645594     DOI: 10.1002/ajmg.1320570108

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


  5 in total

1.  Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

Authors:  F Zhao; C G Weismann; M Satoda; M E Pierpont; E Sweeney; E M Thompson; B D Gelb
Journal:  Am J Hum Genet       Date:  2001-08-14       Impact factor: 11.025

2.  Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Authors:  Arya Mani; Jayaram Radhakrishnan; Anita Farhi; Khary S Carew; Carole A Warnes; Carol Nelson-Williams; Ronald W Day; Barbara Pober; Matthew W State; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2005-01-31       Impact factor: 11.205

Review 3.  Patent arterial duct.

Authors:  Jonathan T Forsey; Ola A Elmasry; Robin P Martin
Journal:  Orphanet J Rare Dis       Date:  2009-07-10       Impact factor: 4.123

4.  Epidemiology, presentation and population genetics of patent ductus arteriosus (PDA) in the Dutch Stabyhoun dog.

Authors:  Marjolein L den Toom; Agnes E Meiling; Rachel E Thomas; Peter A J Leegwater; Henri C M Heuven
Journal:  BMC Vet Res       Date:  2016-06-13       Impact factor: 2.741

5.  KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Authors:  Lingyu Hu; Li Chen; Liu Yang; Zi Ye; Wenhuan Huang; Xinxin Li; Qing Liu; Junlu Qiu; Xiaofeng Ding
Journal:  Mol Med Rep       Date:  2020-08-24       Impact factor: 2.952

  5 in total

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