Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome

Journal of Medical Genetics

Volumn 54, Issue 8, 2017, Pages 558-566

  Stepensky, Polina ^a   Chacón Flores, Montserrat ^b   Kim, Katherine H ^c,d   Abuzaitoun, Omar ^e   Bautista Santos, Arnulfo ^b   Simanovsky, Natalia ^a   Siliqi, Dritan ^f   Altamura, Davide ^f   Méndez Godoy, Alfonso ^b   Gijsbers, Abril ^b   Eddin, Adeeb Naser ^a   Dor, Talia ^a   Charrow, Joel ^c,d   Sánchez Puig, Nuria ^b   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e Nablus Specialty Hospital   (Palestine)

^f CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EUKARYOTIC INITIATION FACTOR 6; GUANOSINE TRIPHOSPHATASE; INITIATION FACTOR; UNCLASSIFIED DRUG; ELONGATION FACTOR-LIKE 1, PROTEIN, HUMAN;

ARTICLE; CIRCULAR DICHROISM; CLINICAL ARTICLE; COLORIMETRY; CONFORMATIONAL TRANSITION; ENZYME ACTIVITY; EXOCRINE PANCREATIC INSUFFICIENCY; EXOCRINE SECRETION; FEMALE; FLUORESCENCE MICROSCOPY; GENE EXPRESSION; GENE MUTATION; GENETIC COMPLEMENTATION; HOMOZYGOTE; HUMAN; INFANTILE PANCYTOPENIA; MALE; MOLECULAR DYNAMICS; MUTANT; PANCYTOPENIA; PHENOTYPE; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SANGER SEQUENCING; SHWACHMAN SYNDROME; SKELETON MALFORMATION; WHOLE EXOME SEQUENCING; X RAY CRYSTALLOGRAPHY; YEAST CELL; 60S RIBOSOMAL SUBUNIT; ABNORMALITIES; BONE; BONE MARROW DISEASE; CASE REPORT; CHEMISTRY; CHILD; COMPLICATION; ENZYMOLOGY; GENETIC VARIATION; GENETICS; INFANT; LIPOMATOSIS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROTEIN FOLDING;

BONE AND BONES; BONE MARROW DISEASES; CHILD; CHILD, PRESCHOOL; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; GENETIC VARIATION; GTP PHOSPHOHYDROLASES; HUMANS; INFANT; LIPOMATOSIS; MALE; MUTATION; PANCYTOPENIA; PROTEIN FOLDING; RIBOSOME SUBUNITS, LARGE, EUKARYOTIC; SACCHAROMYCES CEREVISIAE; WHOLE EXOME SEQUENCING;

EID: 85026350247     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104366     Document Type: Article

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