Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

American Journal of Medical Genetics, Part A

Volumn 140, Issue 12, 2006, Pages 1285-1296

  Verloes, Alain ^a   Bremond Gignac, Dominique ^a   Isidor, Bertrand ^b   David, Albert ^b   Baumann, Clarisse ^a   Leroy, Marie Anne ^c   Stevens, René ^d   Gillerot, Yves ^e   Héron, Delphine ^f   Héron, Bénédicte ^g   Benzacken, Brigitte ^h   Lacombe, Didier ⁱ   Brunner, Han ^j   Bitoun, Pierre ^k  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b NANTES UNIVERSITY HOSPITAL   (France)

^c Clinique St Joseph Espérance ^*

^d Clinique Saint Joseph   (Belgium)

^e INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g HÔPITAL JEAN VERDIER   (France)

^h Pellegrin University Hospital   (France)

ⁱ HÔPITAL PELLEGRIN   (France)

^j University Hospital Jean Verdier   (Netherlands)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

Blepharophimosis; Hypothyroidism; Nosology; Ohdo syndrome; Young Simpson syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEPHAROPHIMOSIS; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DEAFNESS; CONGENITAL HEART MALFORMATION; CONGENITAL HYPOTHYROIDISM; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; FACE MALFORMATION; FEMALE; GENITAL MALFORMATION; HEREDITARY OPTIC ATROPHY; HUMAN; INFANT; JOINT MALFORMATION; MAAT KIEVIT BRUNNER SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; OHDO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SAY BARBER BIESECKER SYNDROME; SIBLING; THUMB MALFORMATION; TOOTH MALFORMATION; X CHROMOSOME LINKED DISORDER; YOUNG SIMPSON SYNDROME;

EID: 33744810053     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31270     Document Type: Article

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