P2293
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiologySecond trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findingsRhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
P921
Q35631525-4079F54C-E589-4A06-8A2B-CB435CE3A8E0Q36261015-27FA6805-5DB4-4DD0-BDD0-2D65FE8446B1Q40751534-3C806FCC-9FE2-490B-9AD2-465FCB5712F9Q43795523-899C3BCD-C068-4BDF-B062-7D36D0984D23Q47566525-D1A83EAE-A0EC-4146-B213-1206A523E04AQ56769618-ED6A28CB-EADB-4ECD-A981-787FDBEF5289Q82258443-EFFC1160-9766-423F-A9EE-3B63B004B012Q82847841-9D47CAE9-BE45-40C8-8315-B1E4882A8354
P921
description
A rhizomelic chondrodysplasia ...... EX7 gene on chromosome 6q23.3.
@en
name
Chondrodysplasie ponctuée type rhizomélique type 1
@fr
rhizomelic chondrodysplasia punctata type 1
@en
type
label
Chondrodysplasie ponctuée type rhizomélique type 1
@fr
rhizomelic chondrodysplasia punctata type 1
@en
altLabel
Chondrodysplasia Punctata, Rhizomelic Form
@en
Chondrodysplasie Ponctuée Type Rhizomélique (Type 1)
@fr
Chondrodysplasie ponctuee type rhizomelique (Type 1)
@fr
Chondrodysplasie ponctuée type rhizomélique (type 1)
@fr
Chondrodystrophia Calcificans Punctata
@en
Pbd9
@en
Peroxisome Biogenesis Disorder 9
@en
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
@en
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
@en
Rcdp1
@en
prefLabel
Chondrodysplasie ponctuée type rhizomélique type 1
@fr
rhizomelic chondrodysplasia punctata type 1
@en
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P5270
MONDO:0008972
P699
DOID:0110851