Literature DB >> 10955485

A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype.

L Zelante, P Gasparini, A Savoia, M Lomuto, R Pellicano.   

Abstract

A patient presenting with the findings of Acromegaloid Facial Appearance (AFA) syndrome is reported. This case also shows pericardial effusion and skin lesions that both enlarge the spectrum of the phenotype and lump AFA syndrome with another proposed distinct condition [Irvine et al., (1996) J med Genet 33:972-974].

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Year:  2000        PMID： 10955485     DOI： 10.1097/00019605-200009030-00013

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  4 in total

1.  ["Die grosse Barb" in the museum of the University of Marburg. An early documentation of acromegaly].

Authors:  W Krause; G Rassner; R Happle
Journal:  Hautarzt       Date:  2009-06       Impact factor: 0.751

2.  Acromegaloid facial appearance: case report and literature review.

Authors:  Adline Ghazi; Shikha Khosla; Kenneth Becker
Journal:  Case Rep Endocrinol       Date:  2013-02-28

3.  Dorsoventral patterning of the mouse coat by Tbx15.

Authors:  Sophie I Candille; Catherine D Van Raamsdonk; Changyou Chen; Sanne Kuijper; Yanru Chen-Tsai; Andreas Russ; Frits Meijlink; Gregory S Barsh
Journal:  PLoS Biol       Date:  2004-01-20       Impact factor: 8.029

4.  Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Authors:  Harry Pachajoa; William López-Quintero; Sara Vanegas; Claudia L Montoya; Diana Ramírez-Montaño
Journal:  Appl Clin Genet       Date:  2018-03-23
  4 in total

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