Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome

Clinical Genetics

Volumn 76, Issue 2, 2009, Pages 210-213

  Brancati, F ^a,b   Bernardini, L ^a   Cavalcanti, D P ^c   Romano, C ^d   Novelli, A ^a   Dallapiccola, B ^a,e  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

^c UNIVERSITY OF CAMPINAS   (Brazil)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; LEVOTHYROXINE; VALPROIC ACID;

ADULT; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HYPOTHYROIDISM; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENE REARRANGEMENT; GENETIC DISORDER; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; NEWBORN SCREENING; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SEIZURE; YOUNG SIMPSON SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GENE REARRANGEMENT; GENOME, HUMAN; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; SYNDROME;

EID: 70349986214     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01235.x     Document Type: Letter

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