Literature DB >> 728571

Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?

F Char.   

Abstract

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Year:  1978        PMID： 728571

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  8 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

Review 2.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

3.  Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?

Authors:  K Méhes
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

4.  A large family with patent ductus arteriosus and unusual face.

Authors:  H R Davidson
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

5.  Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.

Authors:  Wei Ji; Matthew A Benson; Shoumo Bhattacharya; Yiwei Chen; Jingjing Hu; Fen Li
Journal:  J Surg Res       Date:  2014-01-12       Impact factor: 2.192

6.  TFAP2B mutation and dental anomalies.

Authors:  Natchaya Tanasubsinn; Rekwan Sittiwangkul; Yupada Pongprot; Katsushige Kawasaki; Atsushi Ohazama; Thanapat Sastraruji; Massupa Kaewgahya; Piranit Nik Kantaputra
Journal:  J Hum Genet       Date:  2017-04-06       Impact factor: 3.172

7.  Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Authors:  Anna Zlotina; Artem Kiselev; Alexey Sergushichev; Elena Parmon; Anna Kostareva
Journal:  Front Genet       Date:  2018-06-15       Impact factor: 4.599

8.  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
  8 in total

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