Literature DB >> 3565482

The GAPO syndrome.

S Manouvrier-Hanu, C Largilliere, M Benalioua, J P Farriaux, G Fontaine.   

Abstract

A new case of GAPO syndrome is described in a 4-year-old Algerian girl born of first-cousin parents. This patient also had a right pyelic kidney stone and cerebral venous circulation anomalies inducing scalp vein expansion.

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Mesh：

Year:  1987        PMID： 3565482     DOI： 10.1002/ajmg.1320260323

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


  2 in total

1.  GAPO syndrome with craniosynostosis and intracranial hypertension.

Authors:  Mehdi Golpayegani; Farhad Salari; Zohreh Habibi; Negin Naderian; Farideh Nejat
Journal:  Childs Nerv Syst       Date:  2019-06-23       Impact factor: 1.475

2.  RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.

Authors:  Lina Basel-Vanagaite; Ofer Sarig; Dov Hershkovitz; Dana Fuchs-Telem; Debora Rapaport; Andrea Gat; Gila Isman; Idit Shirazi; Mordechai Shohat; Claes D Enk; Efrat Birk; Jürgen Kohlhase; Uta Matysiak-Scholze; Idit Maya; Carlos Knopf; Anette Peffekoven; Hans-Christian Hennies; Reuven Bergman; Mia Horowitz; Akemi Ishida-Yamamoto; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2009-07-23       Impact factor: 11.025
  2 in total

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