Characteristic external genitalia in male neonates with 5α-reductase deficiency von Munenaga, Takeshi, Ichihashi, Yosuke, Nakano, Satsuki, Shibata, Hironori, Sato, Takeshi, Asanuma, Hiroshi, Homma, Keiko, Hasegawa, Tomonobu, Ishii, Tomohiro

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A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease von Uchida, Noboru, Shibata, Hironori, Nishimura, Gen, Hasegawa, Tomonobu

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A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly von Uchida, Noboru, Mizuno, Yusuke, Seno, Shohei, Koyama, Yutaro, Takahashi, Tsutomu, Shibata, Hironori, Narumi, Satoshi, Hasegawa, Tomonobu, Ishii, Tomohiro

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Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level von Furusawa, Kyohei, Hachiya, Rumi, Shibata, Hironori, Uchida, Noboru, Sasaki, Goro, Fukushima, Hiroyuki, Ishii, Tomohiro, Hasegawa, Tomonobu

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An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report von Ishinoda, Yuki, Uto, Asuka, Yamada, Yoshifumi, Okazaki, Maki, Asada, Hidetomo, Wakamatsu, Seina, Kurihara, Isao, Shibata, Hironori, Ishii, Tomohiro, Hasegawa, Tomonobu, Kumagai, Hiroo, Kasuga, Akira

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report von Uchida, Noboru, Ohnishi, Takuma, Kojima, Takuro, Takahashi, Tsutomu, Makita, Yoshio, Fukami, Maki, Shibata, Hironori, Hasegawa, Tomonobu, Ishii, Tomohiro

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A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome von Hamada, Junpei, Ochi, Fumihiro, Sei, Yuka, Takemoto, Koji, Hirai, Hiroki, Honda, Misa, Shibata, Hironori, Hasegawa, Tomonobu, Eguchi, Mariko

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Histological Changes in Autoimmune Hepatitis with Graves' Disease: A Child Case Report von Yamada, Mamiko, Shibata, Hironori, Masugi, Yohei, Ishi, Tomohiro, Kameyama, Kaori, Ebinuma, Hirotoshi, Hasegawa, Tomonobu

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An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia von Tao, Katsuo, Awazu, Midori, Honda, Misa, Shibata, Hironori, Mori, Takayasu, Uchida, Shinichi, Hasegawa, Tomonobu, Ishii, Tomohiro

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Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation von Kagami, Ryosuke, Sato, Takeshi, Ishii, Tomohiro, Araki, Eriko, Yamashita, Yukio, Shibata, Hironori, Ishihara, Jun, Hasegawa, Tomonobu

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Meningitis and septicemia caused by nontypeable Haemophilus influenzae in a previously healthy 2-year-old girl von Ito, Takao, Shibata, Hironori, Nakazawa, Mie, Myokai, Michiko, Kamimaki, Tsutomu, Ikegaya, Kazuko, Tsuchiya, Ken

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Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension von Yoshida, Yu, Uchida, Keiko, Kodo, Kazuki, Shibata, Hironori, Furutani, Yoshiyuki, Nakayama, Tomotaka, Sakai, Satoshi, Nakanishi, Toshio, Takahashi, Takao, Yamagishi, Hiroyuki

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report von Noboru Uchida, Takuma Ohnishi, Takuro Kojima, Tsutomu Takahashi, Yoshio Makita, Maki Fukami, Hironori Shibata, Tomonobu Hasegawa, Tomohiro Ishii

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Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review von Kuranari, Yuki, Miwa, Tomoru, Kono, Maya, Shibata, Hironori, Ishii, Tomohiro, Hasegawa, Tomonobu

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Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation von Ryosuke Kagami, Takeshi Sato, Tomohiro Ishii, Eriko Araki, Yukio Yamashita, Hironori Shibata, Jun Ishihara, Tomonobu Hasegawa

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Characteristic external genitalia in male neonates with 5α-reductase deficiency von Munenaga, Takeshi, Ichihashi, Yosuke, Nakano, Satsuki, Shibata, Hironori, Sato, Takeshi, Asanuma, Hiroshi, Homma, Keiko, Hasegawa, Tomonobu, Ishii, Tomohiro

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Two Japanese Infants With Hypothyroidism Following Exposure to Iodinated Contrast Media von Shimura, Kazuhiro, Shibata, Hironori, Hasegawa, Tomonobu, Ishii, Tomohiro

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Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report von Yoshikawa, Haruna, Sato, Takeshi, Ishikawa, Takahiro, Ito, Jumpei, Yamazaki, Fumito, Shima, Haruko, Honda, Misa, Shibata, Hironori, Ishii, Tomohiro, Asanuma, Hiroshi, Shimada, Hiroyuki, Hasegawa, Tomonobu

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An elderly patient with 17[alpha]-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report von Ishinoda, Yuki, Uto, Asuka, Yamada, Yoshifumi, Okazaki, Maki, Asada, Hidetomo, Wakamatsu, Seina, Kurihara, Isao, Shibata, Hironori, Ishii, Tomohiro, Hasegawa, Tomonobu, Kumagai, Hiroo, Kasuga, Akira

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Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia von Yamada, Yuji, Shima, Haruko, Shibata, Hironori, Ishii, Tomohiro, Hasegawa, Tomonobu, Shimada, Hiroyuki

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