Literature DB >> 4431036

The tricho-rhino-phalangeal syndrome.

D D Weaver, M M Cohen, D W Smith.   

Abstract

Entities:  

Mesh：

Year:  1974        PMID： 4431036      PMCID： PMC1013153          DOI： 10.1136/jmg.11.3.312

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  4 in total

1.  DYSOSTOSIS EPIPHYSAREA PERIPHERICA.

Authors:  N HOBOLTH; O MUNE
Journal:  Acta Rheumatol Scand       Date:  1963

2.  [Peculiar constitutional anomalies in 2 sisters and their relations to recent findings in evolutional pathology].

Authors:  G KLINGMULLER
Journal:  Hautarzt       Date:  1956-03       Impact factor: 0.751

3.  [The tricho-rhino-phalangeal syndrome].

Authors:  G Fontaine; P Maroteaux; J P Farriaux; J Richard; B Roelens
Journal:  Arch Fr Pediatr       Date:  1970 Jun-Jul

4.  Trichorhinophalangeal syndrome in two sibs.

Authors:  I E Hussels
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06
  4 in total
  3 in total

1.  Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family.

Authors:  S R Dahlqvist; B Lundström; G Holmgren
Journal:  Ann Rheum Dis       Date:  1989-09       Impact factor: 19.103

Review 2.  Brachydactyly E: isolated or as a feature of a syndrome.

Authors:  Arrate Pereda; Intza Garin; Maria Garcia-Barcina; Blanca Gener; Elena Beristain; Ane Miren Ibañez; Guiomar Perez de Nanclares
Journal:  Orphanet J Rare Dis       Date:  2013-09-12       Impact factor: 4.123

3.  Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.

Authors:  Francesca Marta Elli; Deborah Mattinzoli; Camilla Lucca; Matteo Piu; Maria A Maffini; Jole Costanza; Laura Fontana; Carlo Santaniello; Concetta Forino; Donatella Milani; Maria Teresa Bonati; Andrea Secco; Roberto Gastaldi; Carlo Alfieri; Piergiorgio Messa; Monica Miozzo; Maura Arosio; Giovanna Mantovani
Journal:  J Bone Miner Res       Date:  2022-01-17       Impact factor: 6.390
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.