Reactome | Munnich, A

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Munnich, A Show undefined attributes

created	[InstanceEdit:2038336] Rothfels, K, 2012-01-09
dbId	2038337
displayName	Munnich, A
firstname	Arnold
initial	A
publications	[LiteratureReference:2038356] Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 [LiteratureReference:2537602] Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations [LiteratureReference:2059901] Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome [LiteratureReference:2045073] Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1) [LiteratureReference:2060831] Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia [LiteratureReference:2471651] Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis [LiteratureReference:5229105] Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature [LiteratureReference:5607812] Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations [LiteratureReference:9836937] Mitochondrial double-stranded RNA triggers antiviral signalling in humans [LiteratureReference:5632908] Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion [LiteratureReference:8875837] Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy [LiteratureReference:5618151] Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) [LiteratureReference:5624799] A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium [LiteratureReference:5228855] A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency [LiteratureReference:5675667] Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases [LiteratureReference:9861705] NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases [LiteratureReference:8941506] Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis
schemaClass	Person
surname	Munnich

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