Y. Goto

New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.

K. Takeshita, K. Ohno, H. Ehara, 1997, American journal of medical genetics.

Multiple Vascular Accidents Including Rupture of a Sinus of Valsalva Aneurysm, a Minor Ischemic Stroke and Intracranial Arterial Anomaly in a Patient with Systemic Congenital Abnormalities: A Case Report

M. Mishina, Y. Nishiyama, K. Katsura, 2013, Case Reports in Neurology.

Recurrent restenosis after percutaneous transluminal coronary angioplasty in a patient with congenital protein C deficiency and high activated factor VII level.

K. Kario, T. Miyata, H. Kato, 1996, Thrombosis research.

Progressive myoclonus epilepsy with unusual neuropathologic features

K. Mizukami, K. Kosaka, H. Shiraishi, 1995 .

[A case of chronic postural tachycardia syndrome with positive anti-ganglionic acetylcholine receptor (gAChR) antibody].

Kazushi Takahashi, S. Nakane, K. Sugaya, 2021, Rinsho shinkeigaku = Clinical neurology.