A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Ikumi Hori, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Naoki Ando, Keith A. Boroevich, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh

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Medicine & Life Sciences