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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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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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