Cheng, S W <br/><br/>
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.  [electronic resource] 

 -  European journal of medical genetics  Apr 2018 
 - 219-224 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2017.11.018  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ADAMTS Proteins--genetics<br/>Bone Diseases, Developmental--genetics<br/>Child<br/>Child, Preschool<br/>Female<br/>Fibrillin-1--genetics<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Limb Deformities, Congenital--genetics<br/>Male<br/>Middle Aged<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Weill-Marchesani Syndrome--genetics