A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene

A.G. Delmonaco; E. Gaidolfi; G.C. Scheper; E. Girardo; C. Molinatto; E. Belligni; G.B. Ferrero; M. Cirillo Silengo; M.S. van der Knaap

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene

A.G. Delmonaco, E. Gaidolfi, G.C. Scheper, E. Girardo, C. Molinatto, E. Belligni, G.B. Ferrero, M. Cirillo Silengo, M.S. van der Knaap

Research output: Contribution to Journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	125-129
Journal	Minerva pediatrica
Volume	63
Issue number	2
Publication status	Published - 2011

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Delmonaco, A. G., Gaidolfi, E., Scheper, G. C., Girardo, E., Molinatto, C., Belligni, E., Ferrero, G. B., Cirillo Silengo, M., & van der Knaap, M. S. (2011). A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. Minerva pediatrica, 63(2), 125-129.

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title = "A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene",

author = "A.G. Delmonaco and E. Gaidolfi and G.C. Scheper and E. Girardo and C. Molinatto and E. Belligni and G.B. Ferrero and {Cirillo Silengo}, M. and {van der Knaap}, M.S.",

year = "2011",

language = "English",

volume = "63",

pages = "125--129",

journal = "Minerva pediatrica",

issn = "0026-4946",

publisher = "Edizioni Minerva Medica S.p.A.",

number = "2",

}

Delmonaco, AG, Gaidolfi, E, Scheper, GC, Girardo, E, Molinatto, C, Belligni, E, Ferrero, GB, Cirillo Silengo, M & van der Knaap, MS 2011, 'A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene', Minerva pediatrica, vol. 63, no. 2, pp. 125-129.

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. / Delmonaco, A.G.; Gaidolfi, E.; Scheper, G.C. et al.
In: Minerva pediatrica, Vol. 63, No. 2, 2011, p. 125-129.

Research output: Contribution to Journal › Article › Academic › peer-review

TY - JOUR

T1 - A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene

AU - Delmonaco, A.G.

AU - Gaidolfi, E.

AU - Scheper, G.C.

AU - Girardo, E.

AU - Molinatto, C.

AU - Belligni, E.

AU - Ferrero, G.B.

AU - Cirillo Silengo, M.

AU - van der Knaap, M.S.

PY - 2011

Y1 - 2011

M3 - Article

SN - 0026-4946

VL - 63

SP - 125

EP - 129

JO - Minerva pediatrica

JF - Minerva pediatrica

IS - 2

ER -