Tags

Type your tag names separated by a space and hit enter

Neonatal osteoma cutis due to a mutation in GNAS.
Pediatr Dermatol. 2019 Sep; 36(5):732-734.PD

Abstract

We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.

Authors+Show Affiliations

Pediatric Endocrinology and Diabetes Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel. The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.The Genomic Unit, Sheba Cancer Research Center, Ramat-Gan, Israel.The Genomic Unit, Sheba Cancer Research Center, Ramat-Gan, Israel.The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Pediatric Dermatology Service, The Department of Dermatology, Sheba Medical Center, Ramat-Gan, Israel.The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Pediatric Dermatology Service, The Department of Dermatology, Sheba Medical Center, Ramat-Gan, Israel.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31215057

Citation

Levy-Shraga, Yael, et al. "Neonatal Osteoma Cutis Due to a Mutation in GNAS." Pediatric Dermatology, vol. 36, no. 5, 2019, pp. 732-734.
Levy-Shraga Y, Barel O, Javasky E, et al. Neonatal osteoma cutis due to a mutation in GNAS. Pediatr Dermatol. 2019;36(5):732-734.
Levy-Shraga, Y., Barel, O., Javasky, E., Barzilai, A., & Greenberger, S. (2019). Neonatal osteoma cutis due to a mutation in GNAS. Pediatric Dermatology, 36(5), 732-734. https://doi.org/10.1111/pde.13879
Levy-Shraga Y, et al. Neonatal Osteoma Cutis Due to a Mutation in GNAS. Pediatr Dermatol. 2019;36(5):732-734. PubMed PMID: 31215057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neonatal osteoma cutis due to a mutation in GNAS. AU - Levy-Shraga,Yael, AU - Barel,Ortal, AU - Javasky,Elisheva, AU - Barzilai,Aviv, AU - Greenberger,Shoshana, Y1 - 2019/06/18/ PY - 2019/6/20/pubmed PY - 2020/2/29/medline PY - 2019/6/20/entrez KW - GNAS KW - osteoma cutis KW - pseudohypoparathyroidism SP - 732 EP - 734 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 36 IS - 5 N2 - We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/31215057/Neonatal_osteoma_cutis_due_to_a_mutation_in_GNAS_ L2 - https://doi.org/10.1111/pde.13879 DB - PRIME DP - Unbound Medicine ER -