Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB ‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit-Reference-Cited by-同舟云学术

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB ‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

Published:2018-05-23 Issue:7 Volume:176 Page:1559-1568
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rehder Helga¹²^ORCID,Laccone Franco¹,Kircher Susanne G.¹,Schild Ralf L.³,Rapp Christiane⁴,Bald Rainer⁵,Schulze Bernt⁶,Behunova Jana¹,Neesen Juergen¹,Schoner Katharina²

Affiliation:

1. Institute of Medical GeneticsMedical University of ViennaVienna Austria

2. Institute of PathologyPhilipps University of MarburgMarburg Germany

3. Department of ObstetricsDiacovere FriederikenstiftHannover Germany

4. Department of Praenatal MedicineKlinikum OldenburgOldenburg Germany

5. Clinic of Gynaecology and ObstetricsKlinikum LeverkusenLeverkusen Germany

6. Practice for Human GeneticsHannover Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38828

Reference23 articles.

1. SOX9 directly regulates the type-ll collagen gene

2. Mutations in FLNB cause boomerang dysplasia

3. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia;Canki‐Klain N.;Annales De Genetique,1992

4. Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

5. Actin-Binding Protein Requirement for Cortical Stability and Efficient Locomotion

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