Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia

European Journal of Medical Genetics

Volumn 56, Issue 11, 2013, Pages 603-605

  Corujeira, Susana ^a   Águeda, Sofia ^a   Monteiro, Georgina ^a   Canelhas, Aurea ^a   Sampaio, Mafalda ^a   Rocha, Ruben ^a   Leão, Miguel ^a  

^a HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

BRESEK BRESHECK syndrome; Hirschsprung disease; Hypogammaglobulinemia; IFAP syndrome; MBTPS2; Rectal fistula

Indexed keywords

MBTPS2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRESEK SYNDROME; BRESHECK SYNDROME; CASE REPORT; CONGENITAL MALFORMATION; EAR DISEASE; ECTODERMAL DYSPLASIA; EYE MALFORMATION; HIRSCHSPRUNG DISEASE; HUMAN; ICHTHYOSIS FOLLICULAR WITH ATRICHIA AND PHOTOPHOBIA SYNDROME; IMMUNOGLOBULIN DEFICIENCY; INFANT; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XY; KIDNEY DYSPLASIA; MALE; MISSENSE MUTATION; PHENOTYPE; PHOTOPHOBIA; PHYSICAL EXAMINATION; RARE DISEASE; SKELETON MALFORMATION;

FISTULA;

BRESEK/BRESHECK SYNDROME; HIRSCHSPRUNG DISEASE; HYPOGAMMAGLOBULINEMIA; IFAP SYNDROME; MBTPS2; RECTAL FISTULA;

AGAMMAGLOBULINEMIA; BRAIN; CONGENITAL ABNORMALITIES; EAR; ECTODERMAL DYSPLASIA; GENETIC DISEASES, X-LINKED; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KIDNEY; MALE; METALLOENDOPEPTIDASES; PHENOTYPE;

EID: 84885954035     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.09.005     Document Type: Article

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