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Literature DB >> 5539773

Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.

R J Latta, C B Graham, J Aase, S M Scham, D W Smith.

Abstract

Entities: Disease

Mesh：

Year: 1971 PMID： 5539773 DOI： 10.1016/s0022-3476(71)80014-8

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

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Cited

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20 in total

1. Larsen syndrome in two generations of an Italian family.

Authors: V Ventruto; F Festa; L Sebastio; G Sebastio
Journal: J Med Genet Date: 1976-12 Impact factor: 6.318

2. Larsen syndrome--lethal variety.

Authors: M L Kulkarni; Zaheeruddin Mohammed; Preethi M Kulkarni
Journal: Indian J Pediatr Date: 2005-12 Impact factor: 1.967

3. Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors: J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal: J Med Genet Date: 1992-07 Impact factor: 6.318

4. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal: J Med Genet Date: 2006-06-26 Impact factor: 6.318

5. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Authors: François Cartault; Patrick Munier; Marie-Line Jacquemont; Jeannine Vellayoudom; Bérénice Doray; Christine Payet; Hanitra Randrianaivo; Jean-Marc Laville; Arnold Munnich; Valérie Cormier-Daire
Journal: Eur J Hum Genet Date: 2014-04-23 Impact factor: 4.246

Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.

1. Larsen syndrome in two generations of an Italian family.

2. Larsen syndrome--lethal variety.

3. Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

4. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

5. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

6. Mutations responsible for Larsen syndrome cluster in the FLNB protein.

7. Biochemical and structural abnormalities of the connective tissue in Larsen's syndrome.

8. The Larsen syndrome occurring in four generations of one family.

9. A further patient with the lethal type of Larsen syndrome.

10. Images - Extra (too many) carpal bones in Larsen's syndrome.