Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

doi:10.1210/clinem/dgaa218

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Article

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

The Journal of clinical endocrinology and metabolism - 1 Aug 2020

Sentchordi-Montané Lucía, Benito-Sanz Sara, Aza-Carmona Miriam, Pereda Arrate, Parrón-Pajares Manuel, de la Torre Carolina, Vasques Gabriela A, Funari Mariana F A, Travessa André M, Dias Patrícia, Suarez-Ortega Larisa, González-Buitrago Jesús, Portillo-Najera Nancy Elizabeth, Llano-Rivas Isabel, Martín-Frías María, Ramírez-Fernández Joaquín, Sánchez Del Pozo Jaime, Garzón-Lorenzo Lucía, Martos-Moreno Gabriel A, Alfaro-Iznaola Cristina, Mulero-Collantes Inés, Ruiz-Ocaña Pablo, Casano-Sancho Paula, Portela Ana, Ruiz-Pérez Lorea, Del Pozo Angela, Vallespín Elena, Solís Mario, Lerario Antônio M, González-Casado Isabel, Ros-Pérez Purificación, Pérez de Nanclares Guiomar, Jorge Alexander A L, Heath Karen E

Abstract excerpt

CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. Genetic screening in individuals with short stature and mild skeletal anomalies has been increasing over recent years, allowing us to broaden the clinical spectrum of skeletal dysplasias. OBJECTIVE: The objective of this article is to...

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PMID: 32311039
DOI: 10.1210/clinem/dgaa218

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