Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia.
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
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J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203.
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Kato M, Dobyns WB.
J Child Neurol. 2005 Apr;20(4):392-7. doi: 10.1177/08830738050200042001.
[ARX--one gene--many phenotypes].
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X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
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Child Neurol Open. 2017 Nov 7;4:2329048X17738625. doi: 10.1177/2329048X17738625. eCollection 2017 Jan-Dec.
ARX mutations in X-linked lissencephaly with abnormal genitalia.
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Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba.
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D.
Am J Med Genet. 1999 Oct 8;86(4):331-7.
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K.
Nat Genet. 2002 Nov;32(3):359-69. doi: 10.1038/ng1009. Epub 2002 Oct 15.
Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.
Jagła M, Kruczek P, Kwinta P.
J Clin Ultrasound. 2008 Jul-Aug;36(6):387-90. doi: 10.1002/jcu.20473.
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gélot A.
Ann Neurol. 2002 Mar;51(3):340-9. doi: 10.1002/ana.10119.
X-linked malformations of cortical development.
Leventer RJ, Mills PL, Dobyns WB.
Am J Med Genet. 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W.
