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

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

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

Belgian Endocrine Society 2018

BES 2018

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

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

BiosciAbstracts