Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations.
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, 466-8550, Nagoya, Japan.
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K
Sugiura
Department of Neurology, Aichi Children's Health and Medical Center, 426, 7chome Morioka-cho, Obu, 474-8710, Aichi, Japan.
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A
Ohno
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, 466-8550, Nagoya, Japan.
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M
Kono
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, 466-8550, Nagoya, Japan.
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H
Kitoh
Department of Neurology, Aichi Children's Health and Medical Center, 426, 7chome Morioka-cho, Obu, 474-8710, Aichi, Japan.
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K
Itomi
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, 466-8550, Nagoya, Japan. makiyama@med.nagoya-u.ac.jp.
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Akiyama
D005260:Female; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000473:pathology*; D017495:Hyperpigmentation; D007223:Infant; D008662:Metacarpophalangeal Joint / Q000473:pathology*; D018000:Receptors, Peptide / Q000235:genetics*
C447150:ANTXR2 protein, human; D018000:Receptors, Peptide