Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: A case report.

Rafael Martínez; Camilo Peña; Manuela Quiroga-Carrillo; Camila Ordóñez-Reyes; Julián Rincón; Fernando Suárez-Obando; Sergio Nossa; María Fernanda García

doi:10.1097/MCD.0000000000000422

Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: A case report.

Rafael Martínez
, Camilo Peña
, Manuela Quiroga-Carrillo
, Camila Ordóñez-Reyes
, Julián Rincón
, Fernando Suárez-Obando
, Sergio Nossa
, María Fernanda García

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Original language	English
Pages (from-to)	162-166
Number of pages	5
Journal	Clinical Dysmorphology
Volume	31
Issue number	3
DOIs	https://doi.org/10.1097/MCD.0000000000000422
State	Published - 01 Jul 2022

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10.1097/MCD.0000000000000422

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@article{c1816522725749f884aa1fb278411aaf,

title = "Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: A case report.",

author = "Rafael Mart{\'i}nez and Camilo Pe{\~n}a and Manuela Quiroga-Carrillo and Camila Ord{\'o}{\~n}ez-Reyes and Juli{\'a}n Rinc{\'o}n and Fernando Su{\'a}rez-Obando and Sergio Nossa and Garc{\'i}a, \{Mar{\'i}a Fernanda\}",

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T1 - Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome

T2 - A case report.

AU - Martínez, Rafael

AU - Peña, Camilo

AU - Quiroga-Carrillo, Manuela

AU - Ordóñez-Reyes, Camila

AU - Rincón, Julián

AU - Suárez-Obando, Fernando

AU - Nossa, Sergio

AU - García, María Fernanda

PY - 2022/7/1

Y1 - 2022/7/1

UR - https://www.scopus.com/pages/publications/85131903522

U2 - 10.1097/MCD.0000000000000422

DO - 10.1097/MCD.0000000000000422

M3 - Article

C2 - 35394469

AN - SCOPUS:85131903522

SN - 0962-8827

VL - 31

SP - 162

EP - 166

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 3

ER -

Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: A case report.

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