The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Journal of Medical Genetics

Volumn 51, Issue 3, 2014, Pages 165-169

  Hamilton, Alexander J ^a,b   Bingham, Coralie ^a,b   McDonald, Timothy J ^a   Cook, Paul R ^c   Caswell, Richard C ^a   Weedon, Michael N ^a   Oram, Richard A ^a   Shields, Beverley M ^a   Shepherd, Maggie ^a   Inward, Carol D ^d   Hamilton Shield, Julian P ^d,e   Kohlhase, Jürgen ^f   Ellard, Sian ^a   Hattersley, Andrew T ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^d BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^e UNIVERSITY OF BRISTOL   (United Kingdom)

^f UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM AND BONE; CLINICAL GENETICS; DIABETES; METABOLIC DISORDERS; RENAL MEDICINE;

FANCONI SYNDROME; FEMALE; HEPATOCYTE NUCLEAR FACTOR 4; HETEROZYGOTE; HUMANS; MALE; MUTATION; NEPHROCALCINOSIS; PHENOTYPE;

EID: 84894418984     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102066     Document Type: Article

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