First international consensus statement on diagnosis and management of pseudohypoparathyroidism and related disorders

被引：0

作者：

Mantovani, G. ^{[1
]}

Bastepe, M. ^{[2
,3
]}

Monk, D. ^{[4
]}

de Sanctis, L. ^{[5
]}

Thiele, S. ^{[6
]}

Usardi, A. ^{[7
,8
]}

Ahmed, F. ^{[9
]}

Bufo, R. ^{[10
]}

Choplin, T. ^{[11
]}

DeFilippo, G. ^{[12
]}

Devernois, G. ^{[11
]}

Eggermann, T. ^{[13
]}

Elli, F. ^{[1
]}

Freson, K. ^{[14
]}

Garcia-Ramirez, A. ^{[15
]}

Germain-Lee, E. ^{[16
,17
]}

Groussin, L. ^{[18
]}

Hamdy, N. ^{[19
,20
]}

Hanna, P. ^{[21
]}

Hiort, O. ^{[6
]}

Juppner, H. ^{[2
,3
]}

Kamenicky, P. ^{[7
,22
,23
]}

Knigh, N. ^{[24
]}

Kottle, M. ^{[25
]}

Le Norcy, E. ^{[26
,27
,28
]}

Lecumberri, B. ^{[29
]}

Levine, M. ^{[30
,31
]}

Makitie, O. ^{[32
,33
]}

Martin, R. ^{[34
]}

Martos-Moreno, G. ^{[35
]}

Minagawa, M. ^{[36
]}

Murray, P. ^{[37
]}

Pereda, A. ^{[38
]}

Pignolo, R. ^{[39
]}

Rejnmar, L. ^{[40
]}

Rodado, R. ^{[15
]}

Rothenbuhler, A.

Saraff, V. ^{[41
]}

Shoemaker, A. ^{[42
]}

Shore, E. ^{[43
,44
]}

Silve, C. ^{[45
]}

Turan, S. ^{[46
]}

Woods, P. ^{[24
]}

Zillikens, M. ^{[47
]}

Perez de Nanclares, G. ^{[38
]}

Linglart, A. ^{[8
,21
]}

机构：

[1] Univ Milan, Dept Clin Sci & Community Hlth, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Endocrinol Unit, Milan, Italy

[2] Massachusetts Gen Hosp, Dept Med, Endocrine Unit, Boston, MA 02114 USA

[3] Harvard Med Sch, Boston, MA 02115 USA

[4] Inst Invest Biomed Bellvitge IDIBELL, Canc Epigenet & Biol Program PEBC, Imprinting & Canc Grp, Barcelona, Spain

[5] Univ Torino, Dept Publ Hlth & Pediat Sci, Pediat Endocrinol Unit, Turin, Italy

[6] Univ Lubeck, Dept Pediat, Div Pediat Endocrinol & Diabet, Lubeck, Germany

[7] Reference Ctr Rare Disorders Calcium & Phosphate, AP HP, Platform Expertise Paris Sud Rare Dis & Filiere O, Le Kremlin Bicetre, France

[8] Bicetre Paris Sud Hosp, AP HP, Endocrinol & Diabet Children, Le Kremlin Bicetre, France

[9] Univ Glasgow, Sch Med Dent & Nursing Studies, Dev Endocrinol Res Grp, Glasgow, Lanark, Scotland

[10] IPOHA, Foggia, Italy

[11] French PHP & Related Disorders Patient Assoc, K20, Jouars Pontchartrain, France

[12] Bicetre Paris Sud Hosp, AP HP, Dept Med Adolescents, Le Kremlin Bicetre, France

[13] Tech Univ Aachen, Inst Human Genet, Aachen, Germany

[14] Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Gasthuisberg, Leuven, Belgium

[15] Spanish PHP & Related Disorders Patient Assoc, AEPHP, Almeria, Spain

[16] Univ Connecticut, Sch Med, Albright Ctr, Farmington, CT USA

[17] Univ Connecticut, Connecticut Childrens Med Ctr, Div Pediat Endocrinol & Diabet, Ctr Rare Bone Disorders,Sch Med, Farmington, CT USA

[18] Univ Paris 05, Sorbonne Paris Cite, Cochin Hosp, Dept Endocrinol, Paris, France

[19] Leiden Univ, Med Ctr, Div Endocrinol, Dept Med, Leiden, Netherlands

[20] Leiden Univ, Med Ctr, Ctr Bone Qual, Leiden, Netherlands

[21] Univ Paris Sud Paris Saclay, Bicetre Paris Sud, INSERM, U1169, Le Kremlin Bicetre, France

[22] Bicetre Paris Sud Hosp, AP HP, Dept Endocrinol & Reprod Dis, Le Kremlin Bicetre, France

[23] INSERM, U1185, Le Kremlin Bicetre, France

[24] UK Acrodysostosis Patients Grp, London, England

[25] Caen Univ Hosp, Dept Genet, Caen, France

[26] Bretonneau Hosp PNVS, AP HP, Dept Odontol, Paris, France

[27] Paris Descartes Univ, Bretonneau Hosp PNVS, Fac Dent, Paris, France

[28] Paris Descartes Univ, Fac Dent, Montrouge, France

[29] La Paz Univ Hosp, Dept Endocrinol & Nutr, Madrid, Spain

[30] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Pediat,Div Endocrinol & Diabet, Philadelphia, PA 19104 USA

[31] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Ctr Bone Hlth, Philadelphia, PA 19104 USA

[32] Univ Helsinki, Helsinki, Finland

[33] Helsinki Univ Hosp, Childrens Hospital, Helsinki, Finland

[34] Univ Sao Paulo, ICB, Dept Fisiol & Biofis, Lab Metabolismo & Endocrinol, Sao Paulo, Brazil

[35] Univ Autonoma Madrid, Hosp Infantil Univ Nino Jesus, Dept Endocrinol, IIS Princesa,Dept Pediat,CIBERobn,ISCIII, Madrid, Spain

[36] Chiba Childrens Hosp, Div Endocrinol, Chiba, Japan

[37] Manchester Univ NHS Fdn Trust, Royal Manchester Childrens Hosp, Dept Paediat Endocrinol, Manchester, Lancs, England

[38] Hosp Univ Araba Txagorritxu, BioAraba Natl Hlth Inst, Mol Epi Genet Lab, Vitoria, ES, Brazil

[39] Mayo Clin, Dept Med, Rochester, MN USA

[40] Aarhus Univ Hosp, Dept Endocrinol & Internal Med, Aarhus, Denmark

[41] Birmingham Childrens Hosp, Dept Endocrinol & Diabet, Birmingham, W Midlands, England

[42] Vanderbilt Univ, Med Ctr, Pediat Endocrinol & Diabet, Nashville, TN USA

[43] Univ Penn, Perelman Sch Med, Ctr Res FOP & Related Disorders, Dept Orthopaed Surg, Philadelphia, PA 19104 USA

[44] Univ Penn, Perelman Sch Med, Ctr Res FOP & Related Disorders, Dept Genet, Philadelphia, PA 19104 USA

[45] Hop Cochin, AP HP, Serv Biochim & Genet Mol, Paris, France

[46] Marmara Univ, Div Endocrinol & Diabet, Dept Pediat, Istanbul, Turkey

[47] Univ Med Ctr Rotterdam, Erasmus MC, Bone Ctr, Dept Internal Med, Rotterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P17.52D

引用

下载

页码：623 / 624

页数：2

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