| http://purl.uniprot.org/citations/32954677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32954677 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital diaphragmatic hernias (CDH) confer substantial morbidity and mortality. Genetic defects, including chromosomal anomalies, copy number variants, and sequence variants are identified in ~30% of patients with CDH. A genetic etiology is not yet found in 70% of patients, however there is a growing number of genetic syndromes and single gene disorders associated with CDH. While there have been two reported individuals with X-linked Opitz G/BBB syndrome with MID1 mutations who have CDH as an associated feature, CDH appears to be a much more prominent feature of a SPECC1L-related autosomal dominant Opitz G/BBB syndrome. Features unique to autosomal dominant Opitz G/BBB syndrome include branchial fistulae, omphalocele, and a bicornuate uterus. Here we present one new individual and five previously reported individuals with CDH found to have SPECC1L mutations. These cases provide strong evidence that SPECC1L is a bona fide CDH gene. We conclude that a SPECC1L-related Opitz G/BBB syndrome should be considered in any patient with CDH who has additional features of hypertelorism, a prominent forehead, a broad nasal bridge, anteverted nares, cleft lip/palate, branchial fistulae, omphalocele, and/or bicornuate uterus."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.61878"xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Du H."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Scott D.A."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Zackai E.H."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Jhangiani S.N."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Posey J.E."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Gordon T."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Bhoj E.J."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/author | "Wild K.T."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/name | "Am J Med Genet A"xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/pages | "2919-2925"xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/title | "Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome."xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://purl.uniprot.org/core/volume | "182"xsd:string |
| http://purl.uniprot.org/citations/32954677 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32954677 |
| http://purl.uniprot.org/citations/32954677 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/32954677 |
| http://purl.uniprot.org/uniprot/#_B2RMV2-mappedCitation-32954677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32954677 |
| http://purl.uniprot.org/uniprot/#_Q69YQ0-mappedCitation-32954677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32954677 |
| http://purl.uniprot.org/uniprot/Q69YQ0 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/32954677 |
| http://purl.uniprot.org/uniprot/B2RMV2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/32954677 |