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ea0057007 | A heterozygous splice-site mutation in PTHLH causes autosomal dominant shorting of metacarpals and -tarsals | BES2018

A heterozygous splice-site mutation in PTHLH causes autosomal dominant shorting of metacarpals and -tarsals

Monica Reyes , Bert Bravenboer , Harald Juppner

Short metacarpals and/or -tarsals are observed in pseudohypoparathyroidism (PHP) type Ia (PHP1A) or pseudo-PHP (PPHP) caused by inactivating GNAS mutations involving exons encoding the stimulatory G protein alpha-subunit (Gαs). Skeletal abnormalities indistinguishable from those caused by Gαs mutations were present in five members of an extended Belgian family, who showed no evidence for abnormal regulation of calcium and phosphate homeostasis. Direct nucleo...

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ea0056gp175 | Parathyroid | ECE2018

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani Giovanna , Lecumberri Beatriz , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFilippo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Levine Michael A , Makitie Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Murray Philip , Pereda Arrate , Pignolo Robert , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M , Silve Caroline , Turan Serap , Woods Philip , Zillikens M Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities that share a common PTH/PTHrP signaling pathway. The clinical and molecular overlap of PHP and related disorders lead to difficulties in clinical and molecular diagnosis which prompt to the possibility of incorrect management of these patients. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseou...

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Endocrine Abstracts

A heterozygous splice-site mutation in PTHLH causes autosomal dominant shorting of metacarpals and -tarsals

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

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