Literature DB >> 474617

Autosomal dominant inheritance of scalp defects with ectrodactyly.

R P Bonafede, P Beighton.   

Abstract

Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.

Entities:  

Mesh:

Year:  1979        PMID: 474617     DOI: 10.1002/ajmg.1320030109

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


  10 in total

Review 1.  The multiple roles of epidermal growth factor repeat O-glycans in animal development.

Authors:  Amanda R Haltom; Hamed Jafar-Nejad
Journal:  Glycobiology       Date:  2015-07-14       Impact factor: 4.313

2.  Anomalous inheritance in a kindred with split hand, split foot malformation.

Authors:  M Spranger; J Schapera
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

3.  Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

Authors:  Laura Southgate; Rajiv D Machado; Katie M Snape; Martin Primeau; Dimitra Dafou; Deborah M Ruddy; Peter A Branney; Malcolm Fisher; Grace J Lee; Michael A Simpson; Yi He; Teisha Y Bradshaw; Bettina Blaumeiser; William S Winship; Willie Reardon; Eamonn R Maher; David R FitzPatrick; Wim Wuyts; Martin Zenker; Nathalie Lamarche-Vane; Richard C Trembath
Journal:  Am J Hum Genet       Date:  2011-05-13       Impact factor: 11.025

Review 4.  Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.

Authors:  E Jaeggi; C Kind; R Morger
Journal:  Eur J Pediatr       Date:  1990-05       Impact factor: 3.183

5.  Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.

Authors:  M Buttiëns; J P Fryns; P Jonckheere; K Brouckmans-Buttiëns; H Van den Berghe
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Authors:  Josephina A N Meester; Maja Sukalo; Kim C Schröder; Denny Schanze; Gareth Baynam; Guntram Borck; Nuria C Bramswig; Duygu Duman; Brigitte Gilbert-Dussardier; Muriel Holder-Espinasse; Peter Itin; Diana S Johnson; Shelagh Joss; Hannele Koillinen; Fiona McKenzie; Jenny Morton; Heike Nelle; Willie Reardon; Claudia Roll; Mustafa A Salih; Ravi Savarirayan; Ingrid Scurr; Miranda Splitt; Elizabeth Thompson; Hannah Titheradge; Colm P Travers; Lionel Van Maldergem; Margo Whiteford; Dagmar Wieczorek; Geert Vandeweyer; Richard Trembath; Lut Van Laer; Bart L Loeys; Martin Zenker; Laura Southgate; Wim Wuyts
Journal:  Hum Mutat       Date:  2018-07-04       Impact factor: 4.878

Review 7.  Congenital diseases caused by defective O-glycosylation of Notch receptors.

Authors:  Yuko Tashima; Tetsuya Okajima
Journal:  Nagoya J Med Sci       Date:  2018-08       Impact factor: 1.131

8.  Adams-Oliver Syndrome: A Rare Congenital Disorder.

Authors:  Sumara Rashid; Saleha Azeem; Samiha Riaz
Journal:  Cureus       Date:  2022-03-18

9.  A Case of Adams-Oliver Syndrome.

Authors:  Minoo Saeidi; Fahime Ehsanipoor
Journal:  Adv Biomed Res       Date:  2017-12-28

Review 10.  Significant Roles of Notch O-Glycosylation in Cancer.

Authors:  Weiwei Wang; Tetsuya Okajima; Hideyuki Takeuchi
Journal:  Molecules       Date:  2022-03-09       Impact factor: 4.411

  10 in total

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