Watery diarrhea-hypopotassemia-acidosis syndrome like diarrhea in a case with X-linked lissencephaly with abnormal genitalia.
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X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
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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.
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.
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.
ARX mutations in X-linked lissencephaly with abnormal genitalia.
Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J.
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 (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.
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.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D.
J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203.
X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.
Hahn A, Gross C, Uyanik G, Hehr U, Hügens-Penzel M, Alzen G, Neubauer BA.
Neuropediatrics. 2004 Jun;35(3):202-5. doi: 10.1055/s-2004-817955.
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R.
Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3.
