✦ LIBER ✦

Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism

✍ Scribed by Rita Domingues; Rute Alexandra Tomaz; Carmo Martins; Carla Nunes; Maria João Bugalho; Branca Maria Cavaco

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Frequent Large Germline HRPT2 Deletions

✍ Bricaire, Léopoldine; Odou, Marie-Françoise; Cardot-Bauters, Catherine; Delemer, 📂 Article 📅 2013 🏛 Endocrine Society 🌐 English ⚖ 224 KB

Identification of the first deletion in

✍ Alessandra Pangrazio; Eveline Boudin; Elke Piters; Giuseppe Damante; Nadia Lo Ia 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 259 KB

Identification of a deletion in the low

✍ B. Horsthemke; Anna M. Kessling; Mary Seed; V. Wynn; R. Williamson; S.E. Humphri 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 404 KB

A large germline deletion in the Chek2 k

✍ Cybulski, C; Wokolorczyk, D; Huzarski, T; Byrski, T; Gronwald, J; Gorski, B; Deb 📂 Article 📅 2006 🏛 BMJ Publishing Group 🌐 English ⚖ 285 KB

First case of deletion of the faciogenit

✍ Jirair K. Bedoyan; Michael J. Friez; Barbara DuPont; Ayesha Ahmad 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 148 KB

Typical renal-coloboma syndrome phenotyp

✍ Kucinskas Laimutis; Craig Jackson; Xinjie Xu; Berta Warman; Rudaitis Sarunas; Ir 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 324 KB