Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

scientific article

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2014.10.014
P932PMC publication ID4259969
P698PubMed publication ID25434003

P50authorChristian BeetzQ47417662
Jill E. UrquhartQ51063860
Simon G WilliamsQ59021241
Thomas MeitingerQ28039310
Melanie WaldenbergerQ29839617
William G. NewmanQ38545164
Hermann-Josef LüdeckeQ40929042
Johanna Christina CzeschikQ40935095
John BurnQ6223948
P2093author name stringThomas Wieland
Beverley Anderson
James O'Sullivan
Sanjeev S Bhaskar
Tim M Strom
Sarah B Daly
Odile Boute
Ute Hehr
Anthonie J van Essen
Elisabeth Graf
Thomas Schwarzmayr
Jasmin Gundlach
Dagmar Wieczorek
Bernhard Horsthemke
Tea Berulava
Charles Marques Lourenco
Johannes R Lemke
Kerstin U Ludwig
Filiz Hazan
Jill Clayton-Smith
Elisabeth Mangold
Michael Zeschnigk
Sarah Park
Sofia Douzgou
Dietmar R Lohmann
Anne C Böhmer
Eva-Christina Prott
Raymond T O'Keefe
Alma Kuechler
Maria Kaffe
Anne Hing
Daniela Falkenstein
Laura Steenpaß
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New dysmorphic syndrome with choanal atresia in siblingsQ55847295
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Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndromeQ79191054
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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegiaQ79226149
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyQ24633650
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeQ28265479
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyQ28275978
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeQ33399905
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationQ34344840
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.Q34959002
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase alleleQ35881399
Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in YemenQ39198430
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectheterozygosityQ124059385
P304page(s)698-707
P577publication date2014-11-26
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleCompound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
P478volume95

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