Literature DB >> 457123

Autosomal dominant acrodysostosis.

J M Cantú, A Hernández, A Panduro-Cerda, Z Nazará-Cazorla.   

Abstract

Entities:  

Mesh：

Year:  1979        PMID： 457123     DOI： 10.1007/bf00321029

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


× No keyword cloud information.
  4 in total

1.  Older paternal age and fresh gene mutation: data on additional disorders.

Authors:  K L Jones; D W Smith; M A Harvey; B D Hall; L Quan
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406

2.  Discordance for giant pigmented nevi in monozygotic twins.

Authors:  J M Cantu; J Urrusti; A Hernandez; V Del Castillo; E Macotela-Rutz
Journal:  Ann Genet       Date:  1973-12

3.  Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

Authors:  M Robinow; R A Pfeiffer; R J Gorlin; V A McKusick; A W Renuart; G F Johnson; R L Summitt
Journal:  Am J Dis Child       Date:  1971-03

4.  Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings.

Authors:  N Niikawa; I Matsuda; T Ohsawa; T Kajii
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132
  4 in total
  2 in total

1.  Acrodysostosis and blue eyes.

Authors:  N Niikawa; I Matsuda; T Ohsawa; T Kajii
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

2.  Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Authors:  Caroline Michot; Carine Le Goff; Edward Blair; Patricia Blanchet; Yline Capri; Brigitte Gilbert-Dussardier; Alice Goldenberg; Alex Henderson; Bertrand Isidor; Hulya Kayserili; Esther Kinning; Martine Le Merrer; Stanislas Lyonnet; Sylvie Odent; Pelin Ozlem Simsek-Kiper; Chloé Quelin; Ravi Savarirayan; Marleen Simon; Miranda Splitt; Judith M A Verhagen; Alain Verloes; Arnold Munnich; Geneviève Baujat; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2018-07-13       Impact factor: 4.246
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.