Your browser doesn't support javascript.
loading
A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Pace, Nikolai Paul; Pace Bardon, Michael; Borg, Isabella.
Affiliation
  • Pace NP; Centre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
  • Pace Bardon M; Department of Medicine, Mater Dei Hospital, Msida, Malta.
  • Borg I; Centre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Mol Genet Genomic Med ; 8(12): e1528, 2020 12.
Article in En | MEDLINE | ID: mdl-33047879
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Homeodomain Proteins / Sleep Apnea, Central / Loss of Function Mutation / Hirschsprung Disease / Hypoventilation Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Infant / Male / Middle aged Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: Malta Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Homeodomain Proteins / Sleep Apnea, Central / Loss of Function Mutation / Hirschsprung Disease / Hypoventilation Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Infant / Male / Middle aged Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: Malta Country of publication: United States