Genitopatellar syndrome: the first reported case in Japan.

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Genitopatellar syndrome: the first reported case in Japan.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Genitopatellar syndrome: the first reported case in Japan.

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Genitopatellar syndrome: the first reported case in Japan.

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Item

label

Genitopatellar syndrome: the first reported case in Japan.

@en

Genitopatellar syndrome: the first reported case in Japan.

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Genitopatellar syndrome: the first reported case in Japan.

@en

Genitopatellar syndrome: the first reported case in Japan.

@nl

P1476

Genitopatellar syndrome: the first reported case in Japan

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P2093

Akie Miyamoto

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Hajime Tanaka

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Ikue Fukuda

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Kenichiro Hata

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Satomi Okano

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Yoichi Matsubara

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Yoshio Makita

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P2860

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

Further delineation of the KAT6B molecular and phenotypic spectrum

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

P2888

s41439-018-0010-1

P304

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P31

scholarly article

case report

P356

10.1038/S41439-018-0010-1

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P478

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P50

Tadashi Kaname

P577

2018-05-28T00:00:00Z

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P6179

1104268635

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P698

29899993

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P932

5972145

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