Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia

Journal of Pediatrics

Volumn 160, Issue 4, 2012, Pages

  Boztug, Kaan ^a,b,c   Rosenberg, Philip S ^d   Dorda, Marie ^c   Banka, Siddharth ^e   Moulton, Thomas ^f   Curtin, Julie ^g   Rezaei, Nima ^h,i   Corns, John ^j   Innis, Jeffrey W ^k   Avci, Zekai ^m   Tran, Hung Chi ⁿ   Pellier, Isabelle ^o   Pierani, Paolo ^p   Fruge, Rachel ^q   Parvaneh, Nima ⁱ   Mamishi, Setareh ⁱ   Mody, Rajen ^l   Darbyshire, Phil ^s   Motwani, Jayashree ^s   Murray, Jennie ^t   Buchanan, George R ^r   Newman, William G ^e   Alter, Blanche P ^d   Boxer, Laurence A ^l   Donadieu, Jean ^u   Welte, Karl ^c   Klein, Christoph ^c,v   more..

^a ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^b UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d NATIONAL CANCER INSTITUTE   (United States)

^e ST MARY S HOSPITAL   (United Kingdom)

^f BRONX LEBANON HOSPITAL CENTER   (United States)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^h TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

ⁱ TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^j NATIONWIDE CHILDREN S HOSPITAL   (United States)

^k UNIVERSITY OF MICHIGAN   (United States)

^l UNIVERSITY OF MICHIGAN HOSPITALS   (United States)

^m Children's Hospital Los Angeles ^*  (Turkey)

ⁿ CHILDREN S HOSPITAL LOS ANGELES   (United States)

^o ANGERS UNIVERSITY HOSPITAL   (France)

^p UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^q CHILDREN S MEDICAL CENTER   (United States)

^r UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^s BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^t WESTERN GENERAL HOSPITAL   (United Kingdom)

^u ARMAND TROUSSEAU HOSPITAL   (France)

^v LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3; UNCLASSIFIED DRUG;

ARTICLE; BONE REMODELING; CANCER RISK; CLINICAL ARTICLE; FACE DYSMORPHIA; FEMALE; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; GENITAL MALFORMATION; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 3; GROWTH HORMONE DEFICIENCY; HUMAN; HYDRONEPHROSIS; INTEGUMENT; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PREDICTIVE VALUE; PRIORITY JOURNAL; SEVERE CONGENITAL NEUTROPENIA;

EID: 84858335877     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.09.019     Document Type: Article

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