Congenital generalized lipodystrophy: Identification of novel variants and expansion of clinical spectrum

Clinical Genetics

Volumn 89, Issue 4, 2016, Pages 434-441

  Haghighi, A ^a,b,c,e   Kavehmanesh, Z ^d   Salehzadeh, F ^f   Santos Simarro, F ^g,h   Van Maldergem, L ⁱ   Cimbalistiene, L ^j   Collins, F ^k   Chopra, M ^l   Al Sinani, S ^m   Dastmalchian, S ⁿ   de Silva, D C ^o   Bakhti, H ^p   Garg, A ^q   Hilbert, P ^r  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d BAQIYATALLAH UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e UNIVERSITY OF TORONTO   (Canada)

^f ARDABIL UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g INSTITUTO DE SALUD CARLOS III   (Spain)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^j VILNIUS UNIVERSITY   (Lithuania)

^k CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^l ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^m SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

ⁿ UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^o UNIVERSITY OF KELANIYA   (Sri Lanka)

^p Pathology Department   (Iran)

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

^r INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

more..

Author keywords

AGPAT2; BSCL2; CGL1; CGL2; Congenital generalized lipodystrophy; Genotype phenotype correlations; Novel variants

Indexed keywords

ACANTHOSIS NIGRICANS; ANEMIA; ARTICLE; BONE CYST; BRAIN HEMORRHAGE; BREAST AUGMENTATION; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLITOROMEGALY; CONGENITAL GENERALIZED LIPODYSTROPHY; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEPATOMEGALY; HUMAN; HYPERTRICHOSIS; HYPERTRIGLYCERIDEMIA; INFANT; INGUINAL HERNIA; INTELLECTUAL IMPAIRMENT; KIDNEY DISEASE; MALE; NEPHROLITHIASIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPLENOMEGALY; STEATORRHEA; UMBILICAL HERNIA;

EID: 84937484774     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12623     Document Type: Article

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