Carol L. Clericuzio

Adolescent Medicine | Pediatrics

2211 Lomas Blvd Ne
Msc10 5590
Albuquerque, NM 87131

Last Updated: 09/26/2026

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Found 16 publications

Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.

Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.

Journal: American journal of medical genetics. Part A

Published: March 19, 2025

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Journal: American journal of medical genetics. Part A

Published: May 01, 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Journal: American journal of human genetics

Published: December 09, 2019

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Journal: Oncotarget

Published: January 08, 2019

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome.

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome.

Journal: Clinical case reports

Published: December 13, 2018

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Journal: Clinical genetics

Published: March 02, 2018

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Journal: American journal of human genetics

Published: February 08, 2016

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Journal: PloS one

Published: November 12, 2015

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.

Journal: American journal of medical genetics. Part A

Published: May 13, 2015

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Journal: eLife

Published: March 05, 2015

Tumor-Induced Rickets Presenting in an Adolescent: A Case Report and Review of the Literature.

Tumor-Induced Rickets Presenting in an Adolescent: A Case Report and Review of the Literature.

Journal: JBJS case connector

Published: September 10, 2014

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Journal: American journal of human genetics

Published: January 06, 2014

Showing 1-12 of 16

Last Updated: 09/26/2026