Article

Different AHO phenotype in a Chinese family with a novel GNAS missense mutation: a case report

2022-03-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Albright’s hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating mutation in the <italic>GNAS </italic>gene. AHO appears in either pseudohypoparathyroidism 1a (PHP1a) when <italic>GNAS</italic> gene is maternally inherited or pseudo-pseudohypoparathyroidism (PPHP) when it is paternally inherited. <bold>Case presentation</bold>...

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Literature Corpus work: 1213d9b3-5fb7-5dc1-81aa-1586450c8a6b
DOI: 10.21203/rs.3.rs-1373207/v1

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