Microcephaly-capillary malformation syndrome: A story of rapid emergence of a new recognizable entity

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2078-2079

  Carter, Melissa T ^a,b   Boycott, Kym M ^c,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOLLAND BLOORVIEW KIDS REHABILITATION HOSPITAL   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d UNIVERSITY OF OTTAWA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; EXOME; GENE IDENTIFICATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; MALFORMATION SYNDROME; MICROCEPHALY CAPILLARY MALFORMATION SYNDROME; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; MORPHOGENESIS; NOTE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; CAPILLARIES; DERMIS; FEMALE; HUMANS; MALE; MICROCEPHALY;

EID: 81155160848     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34149     Document Type: Note

References (3)

1. Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL. 2011. New syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet Part A 155A: 301-306.
2. Isidor B, Barbarot S, Bénéteau C, Le Caignec C, David A. 2011. Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a New syndrome. Am J Med Genet Part A 155A: 1458-1460.
3. Mirzaa GM, Paciorkowski AR, Smyser C, Willing MC, Lind A, Dobyns WB. 2011. The microcephaly-capillary malformation syndrome. Am J Med Genet Part A 155A.