Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

Item
http://www.wikidata.org/entity/Q58443418
Low Density Lipoprotein Receptor Related Proteins as Regulators of Neural Stem and Progenitor Cell FunctionNeuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.Grb7 and Filamin-a associate and are colocalized to cell membrane ruffles upon EGF stimulation.Maxillofacial Changes in Melnick-Needles SyndromePodosomal proteins as causes of human syndromes: a role in craniofacial development?Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Fetal phenotypes in otopalatodigital spectrum disorders.In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlationA syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
P2860

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

Item
http://www.wikidata.org/entity/Q58443418
description
im August 2006 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2006
@uk
name
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@en
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@nl
type
label
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@en
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@nl
prefLabel
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@en
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Otopalatodigital syndrome spec ...... a and Melnick-Needles syndrome
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698