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10.4103/MXE.MXE_23_19

They constituted 19 disorders, which are cherubism, Coffin-Lowry syndrome, congenital insensitivity to pain with anhidrosis, Fanconi–Bickel syndrome, Hajdu-Cheney syndrome, hypophosphatasia, hypophosphatemic rickets, kyphomelic dysplasia, lacrimoauriculodentodigital, Langerhans cell histiocytosis, mandibuloacral dysplasia, microcephalic osteodysplastic primordial dwarfism, Oculodentodigital dysplasia , osteogenesis imperfecta, osteopetrosis, juvenile Paget, polyostotic fibrous dysplasia, vitamin D-dependent rickets 1A, and vitamin D-dependent rickets 2A.

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10.1177/2324709618820660

Coffin-Lowry syndrome is expressed as different phenotypes in males and females.

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10.1111/age.12875

In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin-Lowry syndrome.

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10.1002/mdc3.12778

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder with variable clinical presentation, including growth retardation, facial and skeletal dysmorphic features, sudden drop episodes, epilepsy, and different degrees of intellectual disability.

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10.3760/cma.j.issn.1003-9406.2019.08.011

OBJECTIVE To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome.

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10.1136/jnnp-2019-ABN-2.46

An archived genetic test confirmed the presence of a mutation in RPS6KA3, supporting the diagnosis of Coffin-Lowry syndrome (CLS).

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Coffin Lowry Syndrome

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Feb 03, 2023

What is/are Coffin Lowry Syndrome?

Coffin Lowry Syndrome - They constituted 19 disorders, which are cherubism, Coffin-Lowry syndrome, congenital insensitivity to pain with anhidrosis, Fanconi–Bickel syndrome, Hajdu-Cheney syndrome, hypophosphatasia, hypophosphatemic rickets, kyphomelic dysplasia, lacrimoauriculodentodigital, Langerhans cell histiocytosis, mandibuloacral dysplasia, microcephalic osteodysplastic primordial dwarfism, Oculodentodigital dysplasia , osteogenesis imperfecta, osteopetrosis, juvenile Paget, polyostotic fibrous dysplasia, vitamin D-dependent rickets 1A, and vitamin D-dependent rickets 2A. ^[1] Coffin-Lowry syndrome is expressed as different phenotypes in males and females. ^[2] In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin-Lowry syndrome. ^[3] Coffin-Lowry syndrome (CLS) is a rare X-linked disorder with variable clinical presentation, including growth retardation, facial and skeletal dysmorphic features, sudden drop episodes, epilepsy, and different degrees of intellectual disability. ^[4] OBJECTIVE To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome. ^[5] An archived genetic test confirmed the presence of a mutation in RPS6KA3, supporting the diagnosis of Coffin-Lowry syndrome (CLS). ^[6]