Reactome | Rimoin, DL

Schema > Person > Entries

Rimoin, DL Show undefined attributes

created	[InstanceEdit:195668] D'Eustachio, P, 2007-04-12 15:55:15
dbId	195670
displayName	Rimoin, DL
firstname	David L
initial	DL
modified	[InstanceEdit:5364052] D'Eustachio, Peter, 2014-04-19
publications	[LiteratureReference:2064376] Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I [LiteratureReference:2318403] Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis [LiteratureReference:5603293] Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human [LiteratureReference:3621704] Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred [LiteratureReference:3621693] Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene [LiteratureReference:2054054] Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 [LiteratureReference:195694] Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome [LiteratureReference:2060834] Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
schemaClass	Person
surname	Rimoin

Cite Us!