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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor
, Nader, Sean, Shah, Hitesh, Wickert, Julia and Kutsche, Kerstin
(2016)
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
BMC Medical Genetics 17 (1).
Date of publication of this fulltext: 17 Mar 2020 11:27
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| Item type | Article | ||||
| Journal or Publication Title | BMC Medical Genetics | ||||
| Publisher: | BIOMED CENTRAL LTD | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 17 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Date | 2016 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
| ||||
| Keywords | BOOMERANG DYSPLASIA; FILAMIN-A; MUTATIONS; FLNB; GENE; DISEASE; BINDING; DISLOCATIONS; ABNORMALITY; DEFICIENCY; Larsen syndrome; FLNB; Mutation; Gain-of-function; Autosomal-dominant; Pre-mRNA splicing | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 42301 |
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