title: Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome.
authors.affiliation: Geisel School of Medicine, Hanover, New Hampshire; Section of Pediatric Allergy and Clinical Immunology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire. Electronic address: Marcus.Shaker@dartmouth.edu.
authors.forename: Marcus
authors.initials: M
authors.lastname: Shaker
authors.affiliation: Geisel School of Medicine, Hanover, New Hampshire.
authors.forename: TingJia H
authors.initials: TH
authors.lastname: Lorigiano
authors.affiliation: Section of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.
authors.forename: Anusha
authors.initials: A
authors.lastname: Vadlamudi
mesh_terms: D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D054062:Deaf-Blind Disorders / Q000175:diagnosis*; D004421:Dystonia / Q000175:diagnosis*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009896:Optic Atrophy / Q000175:diagnosis*; D010264:Paraplegia; D010375:Pedigree; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D011984:Sensory Receptor Cells / Q000473:pathology*; D017384:Sequence Deletion; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics; D035362:Transcription Factor TFIID / Q000235:genetics; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C091537:TAF7 protein, human; D035381:TATA-Binding Protein Associated Factors; C118122:TIMM8A protein, human; D035362:Transcription Factor TFIID; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase