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作者：
Lucía,Sentchordi-Montané [1]
;
Sara,Benito-Sanz [2]
;
Miriam,Aza-Carmona [3]
;
Arrate,Pereda [4]
;
Manuel,Parrón-Pajares [1]
;
Carolina,de la Torre [5]
;
Gabriela A,Vasques [1]
;
Mariana F A,Funari [4]
;
André M,Travessa [5]
;
Patrícia,Dias [6]
;
Larisa,Suarez-Ortega [4]
;
Jesús,González-Buitrago [7]
;
Nancy Elizabeth,Portillo-Najera [1]
;
Isabel,Llano-Rivas [8]
;
María,Martín-Frías [9]
;
Joaquín,Ramírez-Fernández [9]
;
Jaime,Sánchez Del Pozo [10]
;
Lucía,Garzón-Lorenzo [10]
;
Gabriel A,Martos-Moreno [11]
;
Cristina,Alfaro-Iznaola [12]
;
Inés,Mulero-Collantes [13]
;
Pablo,Ruiz-Ocaña [14]
;
Paula,Casano-Sancho [15]
;
Ana,Portela [16]
;
Lorea,Ruiz-Pérez [17]
;
Angela,Del Pozo [17]
;
Elena,Vallespín [18]
;
Mario,Solís [19]
;
Antônio M,Lerario [20]
;
Isabel,González-Casado [21]
;
Purificación,Ros-Pérez [22]
;
Guiomar,Pérez de Nanclares [23]
;
Alexander A L,Jorge [24]
;
Karen E,Heath [25]
作者单位：
Institute of Medical and Molecular Genetics (INGEMM); IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
[1]
Department of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.
[2]
Department of Pediatrics, School of Medicine, Complutense University of Madrid, Madrid, Spain.
[3]
Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Madrid, Spain.
[4]
CIBERER, ISCIII, Madrid, Spain.
[5]
Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, BioAraba Health Research Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.
[6]
Department of Radiology, Hospital Universitario La Paz, Madrid, Spain.
[7]
Unidades de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdades de Medicina, Universidades de São Paulo, São Paulo, Universidades de São Paulo, São Paulo, Brazil.
[8]
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.
[9]
Serviςo de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
[10]
Division of Endocrinology, Hospital Sant Joan de Déu, Barcelona, Spain.
[11]
Department of Pediatrics. Hospital San Pedro de Alcántara, Cáceres, Spain.
[12]
Department of Pediatrics, Hospital Alto Deba, 20500 Arrasate, Guipuzkoa, Spain.
[13]
Osakidetza Basque Health Service, Cruces University Hospital Department of Genetics, Barakaldo, Bizkaia, Spain.
[14]
Department of Pediatric Endocrinology, Hospital Universitario Ramón y Cajal, Madrid, Spain.
[15]
Department of Pediatrics, Hospital Universitario Príncipe de Asturias, Madrid, Spain.
[16]
Department of Pediatric Endocrinology, Hospital Universitario Doce de Octubre, Madrid, Spain.
[17]
Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Madrid, Spain.
[18]
Department of Pediatrics, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.
[19]
CIBEROBN, ISCIII, Madrid, Spain.
[20]
Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Móstoles, Madrid, Spain.
[21]
Department of Pediatrics, Hospital Universitario Río Hortega, Valladolid, Spain.
[22]
Department of Pediatrics, Hospital Universitario Puerta del Mar, Cádiz, Spain.
[23]
Department of Pediatric Endocrinology, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, University of Barcelona, 08950 Espluges de Llobregat, Barcelona, Spain and CIBERDEM, ISCIII, Madrid, Spain.
[24]
Department of Pediatric Endocrinology, Pediatric Unit, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerif, Spain.
[25]
Department of Pediatric Endocrinology, Hospital General Universitario de Alicante, Alicante, Spain.
[26]
Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI, US.
[27]
Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain.
[28]
Department of Pediatrics, Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda, Madrid, Spain.
[29]
主题词
青少年(Adolescent);身高(Body Height);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);手(Hand);猬蛋白质类(Hedgehog Proteins);人类(Humans);婴儿(Infant);男(雄)性(Male);突变(Mutation);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);放射摄影术(Radiography)
DOI
10.1210/clinem/dgaa218
PMID
32311039
发布时间
2021-02-08
- 浏览0
The Journal of clinical endocrinology and metabolism
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