Pseudohypoparathyroidism, type Ia

20q13.2 Google OMIM Orphanet PubMed [AHO]

*Gene map locus 20q13.2

Albright hereditary osteodystrophy with multiple hormone resistance

PHP1a

[Clinical features: AHO features; multiple hormone resistance; decreased cellular cAMP response to PTH infusion; decreased erythrocyte Gs activity; GNAS1 mutation in the maternally-derived allele]

[Inheritance: autosomal dominant]

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A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels	Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene	Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene
Arquivos Brasileiros de Endocrinologia e Metabologia	European Journal of Endocrinology	European Journal of Endocrinology


Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a	Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a	A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance
International Journal of Endocrinology	International Journal of Endocrinology	Journal of Clinical Endocrinology & Metabolism


Albright hereditary osteodystrophy: a rare case report	Albright hereditary osteodystrophy: a rare case report	Albright hereditary osteodystrophy: a rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry	Journal of Indian Society of Pedodontics and Preventive Dentistry	Journal of Indian Society of Pedodontics and Preventive Dentistry


Albright hereditary osteodystrophy: a rare case report	Albright hereditary osteodystrophy: a rare case report	Albright hereditary osteodystrophy: a rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry	Journal of Indian Society of Pedodontics and Preventive Dentistry	Journal of Indian Society of Pedodontics and Preventive Dentistry


Albright hereditary osteodystrophy: a rare case report	Albright hereditary osteodystrophy: a rare case report	Albright hereditary osteodystrophy: a rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry	Journal of Indian Society of Pedodontics and Preventive Dentistry	Journal of Indian Society of Pedodontics and Preventive Dentistry

24 images [ from 1 to 15 ]	1 2 next

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Edited by Aldo Campana, August 21, 2012