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Items: 4

1.
Normal children with large heads--benign familial megalencephaly.
R E Day, W H Schutt
Arch Dis Child. 1979 Jul; 54(7): 512–517. doi: 10.1136/adc.54.7.512
PMCID:
PMC1545478
SummaryPage BrowsePDF–1.6M
2.
Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism
Tania López-Hernández, Margreet C. Ridder, Marisol Montolio, Xavier Capdevila-Nortes, Emiel Polder, Sònia Sirisi, Anna Duarri, Uwe Schulte, Bernd Fakler, Virginia Nunes, Gert C. Scheper, Albert Martínez, Raúl Estévez, Marjo S. van der Knaap
Am J Hum Genet. 2011 Apr 8; 88(4): 422–432. doi: 10.1016/j.ajhg.2011.02.009
PMCID:
PMC3071909
AbstractArticlePDF–1.3M
3.
Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.
J H DiLiberti
J Med Genet. 1992 Jan; 29(1): 46–49. doi: 10.1136/jmg.29.1.46
PMCID:
PMC1015821
SummaryPage BrowsePDF–683K
4.
Monozygotic twins concordant for congenital short femur.
J M Connor, P S Rae, R A Connor
J Med Genet. 1986 Aug; 23(4): 363–364. doi: 10.1136/jmg.23.4.363
PMCID:
PMC1049707
SummaryPage BrowsePDF–501K

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