Literature DB >> 3135755

Neurofibromatosis with fully expressed Noonan syndrome.

D N Abuelo1, D L Meryash.   

Abstract

We present an 18-year-old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis-Noonan syndrome (NF-NS) is a discrete entity and demonstrates that the NF-NS can be inherited, with variable expression of the Noonan phenotype within a family.

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Year:  1988        PMID： 3135755     DOI： 10.1002/ajmg.1320290426

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


  7 in total

1.  Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

Authors:  M Sharland; R Taylor; M A Patton; S Jeffery
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

2.  Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Authors:  D A Stevenson; D H Viskochil; A F Rope; J C Carey
Journal:  Clin Genet       Date:  2006-03       Impact factor: 4.438

3.  Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Authors:  M Tassabehji; T Strachan; M Sharland; A Colley; D Donnai; R Harris; N Thakker
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

4.  Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Authors:  H J Stern; H M Saal; J S Lee; P R Fain; D E Goldgar; K N Rosenbaum; D F Barker
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

5.  Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Authors:  L M Kayes; W Burke; V M Riccardi; R Bennett; P Ehrlich; A Rubenstein; K Stephens
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

6.  NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

Authors:  Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2005-10-26       Impact factor: 11.025

7.  Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Authors:  Doğuş Vurallı; Nazlı Gönç; Dominique Vidaud; Alev Özön; Ayfer Alikaşifoğlu; Nurgün Kandemir
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12-18
  7 in total

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